Cystic Fibrosis

Alternative Names

  • CF
  • Mucoviscidosis
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

219700

Mode of Inheritance

Autosomal recessive

Gene Map Locus

7q31.2

Description

Cystic fibrosis (CF) is a multi-system disorder caused by alterations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which is mainly involved in the regulation of transmembrane hydroelectrolytic flux in cells that produce mucus, sweat, saliva, tears, and digestive enzymes. Characteristic clinical features of CF include recurrent endobronchial infections, progressive obstructive pulmonary disease, pancreatic insufficiency, and chronic digestive problems. The CFTR protein is also important for the development of the vas deferens; therefore, males with CF are usually infertile.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
219700.1BahrainUnknown Failure to thrive; Exocrine pancreatic ...NM_000492.3:c.416A>T, NM_000492.3:c.2988+1G>AHeterozygousAutosomal, RecessiveEskandarani, 2002 Compound heterozygou...
219700.2BahrainUnknown Failure to thrive; Exocrine pancreatic...NM_000492.3:c.1029del, NM_000492.3:c.1624G>THeterozygousAutosomal, RecessiveEskandarani, 2002 Compound heterozygou...
219700.3BahrainUnknown Failure to thrive; Exocrine pancrea...NM_000492.3:c.3909C>GHomozygousAutosomal, RecessiveEskandarani, 2002
219700.4EgyptFemaleNoYes Hyponatremia; Hypochloremia; Hypokalem...NM_000492.3:c.3909C>GHomozygousAutosomal, RecessiveWahab et al. 2004a Patient presented wi...
219700.5LebanonFemaleYesNo Abnormality of the respiratory system; ...NM_000492.3:c.3879_3882ATTT[1]HomozygousAutosomal, RecessiveDesgeorges et al. 1997 Patient from family ...
219700.6LebanonMaleYesYes Abnormality of the respiratory system; ...NM_000492.4:c.1520_1522delHomozygousAutosomal, RecessiveDesgeorges et al. 1997 Patient from family ...
219700.7LebanonFemaleYesNo Abnormality of the respiratory system; ...NM_000492.4:c.1520_1522del, NM_000492.3:c.3909C>GHeterozygousAutosomal, RecessiveDesgeorges et al. 1997 Compound heterozygou...
219700.8LebanonMaleYesNo Abnormality of the respiratory system; ...NM_000492.3:c.11C>A, NM_000492.4:c.1520_1522delHeterozygousAutosomal, RecessiveDesgeorges et al. 1997 Compound heterozygou...
219700.9LebanonFemaleYesYes Abnormality of the respiratory system; ...NM_000492.3:c.3964-28G>AHeterozygousAutosomal, RecessiveDesgeorges et al. 1997 Compound heterozygou...
219700.10LebanonMaleYesYes Meconium ileusNM_000492.3:c.3846G>AHomozygousAutosomal, RecessiveDesgeorges et al. 1997 Patient from family ...
219700.11LebanonMaleYesNo Abnormality of the respiratory system; ...NM_000492.3:c.11C>A, NM_000492.3:c.2657+5G>AHeterozygousAutosomal, RecessiveDesgeorges et al. 1997 Compound heterozygou...
219700.12LebanonMaleYesYes Abnormality of the respiratory system; ...NM_000492.3:c.3909C>GHomozygousAutosomal, RecessiveDesgeorges et al. 1997 Patient from family ...
219700.13LebanonFemaleYesYes Abnormality of the respiratory system; ...NM_000492.3:c.3879_3882ATTT[1]HomozygousAutosomal, RecessiveDesgeorges et al. 1997 Patient from family ...
219700.14LebanonMaleYesYes Abnormality of the respiratory system; ...NM_000492.3:c.3846G>AHomozygousAutosomal, RecessiveDesgeorges et al. 1997 Patient from family ...
219700.15LebanonMaleYesYes Abnormality of the respiratory system; ...NM_000492.3:c.3846G>AHomozygousAutosomal, RecessiveDesgeorges et al. 1997 Patient from family ...
219700.16LebanonMaleYesNo Abnormality of the respiratory system; ...NM_000492.4:c.1520_1522delHomozygousAutosomal, RecessiveDesgeorges et al. 1997 Patient from family ...
219700.17LebanonFemaleYesNo Abnormality of the respiratory system; ...NM_000492.4:c.1520_1522del, NM_000492.3:c.3846G>AHeterozygousAutosomal, RecessiveDesgeorges et al. 1997 Compound heterozygou...
219700.18LebanonMaleYesNo Abnormality of the respiratory system; ...NM_000492.3:c.2856G>CHeterozygousAutosomal, RecessiveDesgeorges et al. 1997 Compound heterozygou...
219700.19LebanonFemaleYesYes Abnormality of the respiratory system; ...NM_000492.4:c.1520_1522delHomozygousAutosomal, RecessiveDesgeorges et al. 1997 Patient from family ...
219700.20LebanonMaleYesNo Abnormality of the digestive system; Ex...NM_000492.3:c.2015_2017delHeterozygousAutosomal, RecessiveDesgeorges et al. 1997 Compound heterozygou...
219700.21LebanonFemaleYesYes Abnormality of the respiratory system; ...NM_000492.4:c.1520_1522delHomozygousAutosomal, RecessiveDesgeorges et al. 1997 Patient from family ...
219700.22LebanonFemaleYesNo Abnormality of the respiratory system; ...NM_000492.4:c.1520_1522del, NM_000492.3:c.3846G>AHeterozygousAutosomal, RecessiveDesgeorges et al. 1997 Patient from family ...
219700.23LebanonMaleYesNo Abnormality of the respiratory system; ...NM_000492.4:c.1520_1522delHomozygousAutosomal, RecessiveDesgeorges et al. 1997 Patient from family ...
219700.24LebanonFemaleYesYes Abnormality of the respiratory system; ...NM_000492.3:c.3909C>GHeterozygousAutosomal, RecessiveDesgeorges et al. 1997 Compound heterozygou...
219700.25OmanFemaleNo Elevated sweat chloride; Recurrent upp...NM_000492.3:c.1647T>GHomozygousAutosomal, RecessiveRomey et al. 1999 Patient 'D1' in the ...
219700.26United Arab EmiratesFemaleNo Elevated sweat chloride; Exocrine panc...NM_000492.3:c.1647T>GHomozygousAutosomal, RecessiveRomey et al. 1999 Patient 'D2' in the ...
219700.27United Arab EmiratesMaleNo Elevated sweat chloride; Exocrine pan...NM_000492.3:c.1647T>GHomozygousAutosomal, RecessiveRomey et al. 1999 Patient 'D3' in the ...
219700.28United Arab EmiratesFemaleNo Elevated sweat chloride; Exocrine pa...NM_000492.3:c.1647T>GHomozygousAutosomal, RecessiveRomey et al. 1999 Patient 'D4' in the ...
219700.29United Arab EmiratesFemaleNo Elevated sweat chloride; Exocrine p...NM_000492.3:c.1647T>GHomozygousAutosomal, RecessiveRomey et al. 1999 Patient 'D5' in the ...
219700.30United Arab EmiratesFemaleNo Elevated sweat chloride; Exocrine ...NM_000492.3:c.1647T>GHomozygousAutosomal, RecessiveRomey et al. 1999 Patient 'D6' in the ...
219700.31United Arab EmiratesFemaleNo Elevated sweat chloride; Exocrine...NM_000492.3:c.1647T>GHomozygousAutosomal, RecessiveRomey et al. 1999 Patient 'D7' in the ...
219700.32United Arab EmiratesMaleNo Elevated sweat chloride; Exocrin...NM_000492.3:c.1647T>GHomozygousAutosomal, RecessiveRomey et al. 1999 Patient 'D8' in the ...
219700.33United Arab EmiratesMaleNo Elevated sweat chloride; Exocri...NM_000492.3:c.1647T>GHomozygousAutosomal, RecessiveRomey et al. 1999 Patient 'D9' in the ...
219700.34United Arab EmiratesFemaleNo Elevated sweat chloride; Exocr...NM_000492.3:c.1647T>GHomozygousAutosomal, RecessiveRomey et al. 1999 Patient 'D10' in the...
219700.35United Arab EmiratesMaleNo Elevated sweat chloride; Exoc...NM_000492.3:c.1647T>GHomozygousAutosomal, RecessiveRomey et al. 1999 Patient 'D11' in the...
219700.36United Arab EmiratesFemaleNo Elevated sweat chloride; Exo...NM_000492.3:c.1647T>GHomozygousAutosomal, RecessiveRomey et al. 1999 Patient 'D12' in the...
219700.37United Arab EmiratesFemaleNo Elevated sweat chloride; Ex...NM_000492.3:c.1647T>GHomozygousAutosomal, RecessiveRomey et al. 1999 Patient 'D13' in the...
219700.38United Arab EmiratesFemaleNo Elevated sweat chloride; E...NM_000492.3:c.1647T>GHomozygousAutosomal, RecessiveRomey et al. 1999 Patient 'D14' in the...
219700.39United Arab EmiratesMaleNo Exocrine pancreatic insufficiency; ...NM_000492.3:c.1647T>GHomozygousAutosomal, RecessiveRomey et al. 1999 Patient 'D15' in the...
219700.40United Arab EmiratesMaleNo Exocrine pancreatic insufficiency; ...NM_000492.3:c.1647T>GHomozygousAutosomal, RecessiveRomey et al. 1999 Patient 'D16' in the...
219700.41PalestineFemaleNoNo Exocrine pancreatic insufficiencyNM_000492.3:c.3879_3882ATTT[1], NM_000492.3:c.3909C>GHeterozygousAutosomal, RecessiveShoshani et al. 1994 Compound heterozygou...
219700.42QatarFemaleYes Elevated sweat chloride; Recurrent uppe...NM_000492.3:c.3700A>GHomozygousAutosomal, RecessiveWahab, 2003 Patient is of Arab d...
219700.43QatarFemaleNo Elevated sweat chloride; Recurrent upp...NM_000492.3:c.3700A>GHomozygousAutosomal, RecessiveAbdul Wahab et al. 2005 Patient is of Arab d...
219700.44SyriaMaleYesYes Meconium ileus; Elevated sweat chloride...NM_000492.4:c.1520_1522delHomozygousAutosomal, RecessiveWahab et al. 2002
219700.45TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.3196C>THeterozygousAutosomal, RecessiveMessaoud et al. 2005
219700.46TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.366T>AHeterozygousAutosomal, RecessiveMessaoud et al. 2005
219700.47TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.1993A>THeterozygousAutosomal, RecessiveMessaoud et al. 2005
219700.48TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.443T>CHeterozygousAutosomal, RecessiveMessaoud et al. 2005
219700.49TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.3497T>GHeterozygousAutosomal, RecessiveMessaoud et al. 2005
219700.50TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.3128T>GHeterozygousAutosomal, RecessiveMessaoud et al. 2005
219700.51United Arab EmiratesUnknownNo Elevated sweat chlorideNM_000492.3:c.3909C>GHomozygousAutosomal, RecessiveDawson and Frossard, 1999
219700.52United Arab EmiratesMaleNo Elevated sweat chlorideNM_000492.3:c.2988+1G>AHomozygousAutosomal, RecessiveSaleheen and Frossard, 2006
219700.53Saudi ArabiaMaleYesYes Recurrent lower respiratory tract infect...NM_000492.3:c.416A>T, NM_000492.3:c.1647T>GHeterozygousAutosomal, RecessiveBanjar, 2002; Banjar, 2004 Patient comorbid for...
219700.54Saudi ArabiaFemaleYesYes Elevated sweat chloride; Failure to thr...NM_000492.3:c.579+1G>AHomozygousAutosomal, RecessiveBanjar, 2001; Banjar, 2004 Patient comorbid for...
219700.55Saudi ArabiaFemaleNo Elevated sweat chloride; Meconium ileus...NM_000492.3:c.274-2A>GHomozygousAutosomal, RecessiveEl-Harith et al. 1997 Patient number '4075...
219700.56Saudi ArabiaFemaleNo Elevated sweat chloride; Exocrine panc...NM_000492.3:c.1418del, NM_000492.3:c.3909C>GHeterozygousAutosomal, RecessiveEl-Harith et al. 1997 Patient number 'CF30...
219700.57Saudi ArabiaMaleNo Elevated sweat chloride; Exocrine pan...NM_000492.3:c.1418del, NM_000492.3:c.3909C>GHeterozygousAutosomal, RecessiveEl-Harith et al. 1997 Patient number 'CF32...
219700.58Saudi ArabiaMaleNo Elevated sweat chloride; Exocrine pa...NM_000492.3:c.1418delHeterozygousAutosomal, RecessiveEl-Harith et al. 1997 Patient number 'CF40...
219700.59Saudi ArabiaFemaleNo Elevated sweat chloride; Exocrine p...NM_000492.3:c.1911delHomozygousAutosomal, RecessiveEl-Harith et al. 1997 Patient number 'CF01...
219700.60Saudi ArabiaMaleNo Elevated sweat chloride; Exocrine ...NM_000492.3:c.2988+1G>AHomozygousAutosomal, RecessiveEl-Harith et al. 1997 Patient number 'CF10...
219700.61Saudi ArabiaFemaleNo Elevated sweat chloride; Exocrine...NM_000492.3:c.2988+1G>AHomozygousAutosomal, RecessiveEl-Harith et al. 1997 Patient number 'CF16...
219700.62Saudi ArabiaMaleNo Elevated sweat chloride; Exocrin...NM_000492.3:c.2988+1G>AHomozygousAutosomal, RecessiveEl-Harith et al. 1997 Patient number 'CF46...
219700.63Saudi ArabiaMaleNo Elevated sweat chloride; Exocri...NM_000492.3:c.2988+1G>AHomozygousAutosomal, RecessiveEl-Harith et al. 1997 Patient number 'CF49...
219700.64Saudi ArabiaFemaleNo Elevated sweat chloride; Exocr...NM_000492.3:c.3700A>GHomozygousAutosomal, RecessiveEl-Harith et al. 1997 Patient number 'CF25...
219700.65Saudi ArabiaFemaleNo Elevated sweat chlorideNM_000492.3:c.3700A>GHomozygousAutosomal, RecessiveEl-Harith et al. 1997 Patient number 'CF28...
219700.66Saudi ArabiaFemaleNo Elevated sweat chloride; Exocrine pancr...NM_000492.3:c.3909C>GHomozygousAutosomal, RecessiveEl-Harith et al. 1997 Patient number 'CF19...
219700.67LebanonFemaleNo Elevated sweat chloride; Failure to t...NM_000492.3:c.3717+1G>A, NM_000492.3:c.4251delHeterozygousAutosomal, RecessiveEl-Rifai et al, 2011 Patient's mother has...
219700.68.1PalestineMaleYesYes Recurrent upper respiratory tract infect...NM_000492.4:c.2490_2490+1insTHomozygousAutosomal, RecessiveChami et al, 2017 Proband
219700.69.1LebanonMaleYesYes Recurrent bronchiolitis; Recurrent pneum...NM_000492.4:c.3883_3884insGHomozygousAutosomal, RecessiveFarra et al, 2008; Farra et al, 2010 Proband
219700.69.2LebanonMaleYesYes Respiratory tract infection; Chronic dia...NM_000492.4:c.3883_3884insGHomozygousAutosomal, RecessiveFarra et al, 2008; Farra et al, 2010 Brother of the proba...
219700.70LebanonMaleNo Elevated sweat chlorideNM_000492.3:c.1624G>T, NM_000492.3:c.1646G>AHeterozygousAutosomal, RecessiveFarra et al, 2010 Compound heterozygou...
219700.71LebanonMaleNo Elevated sweat chlorideNM_000492.3:c.2657+5G>AHeterozygousAutosomal, RecessiveFarra et al, 2010 Compound heterozygou...
219700.72LebanonMaleYes Elevated sweat chlorideNM_000492.3:c.1911delHomozygousAutosomal, RecessiveFarra et al, 2010 CF patient from fami...
219700.73LebanonMaleYes Elevated sweat chlorideNM_000492.4:c.[350G>A;1210-12=]HomozygousAutosomal, RecessiveFarra et al, 2010 CF patient from fami...
219700.74United Arab EmiratesMaleYesYes Pancytopenia; Cirrhosis; Bronchiectasis;...NM_000492.3:c.2988+1G>AHeterozygous, HomozygousAutosomal, RecessiveAlsamri et al. 2020
219700.75United Arab EmiratesMaleYesYes Diarrhea; Recurrent respiratory infectio...NM_000492.3:c.523A>GHeterozygous, HomozygousAutosomal, RecessiveAlsamri et al. 2020 Mother's cousin affe...
219700.76United Arab EmiratesMaleYes Constipation; Wheezing; Diarrhea; Elevat...NM_000492.3:c.1647T>G, NM_000492.4:c.3472C>TCompound heterozygousAutosomal, RecessiveFrossard et al. 2000b Patient had milder f...
219700.77Saudi ArabiaMale Non-obstructive azoospermiaNM_000492.3:c.1418delHomozygousAutosomal, RecessiveAlhathal et al. 2020
219700.78United Arab Emirates; ...FemaleYesYes Noncommunicating hydrocephalus; Scoliosi...NM_000492.4:c.4364C>GHomozygousAutosomal, RecessiveFrancis et al. 2023 Emirati of Yemeni or...
219700.G.1.1BahrainUnknown Failure to thrive; Exocrine pancreatic...NM_000492.3:c.416A>T, NM_000492.3:c.3529A>THeterozygousAutosomal, RecessiveEskandarani, 2002 2 compound heterozyg...
219700.G.1.2BahrainUnknown Failure to thrive; Exocrine pancreati...NM_000492.3:c.416A>THeterozygousAutosomal, RecessiveEskandarani, 2002 3 compound heterozyg...
219700.G.1.3BahrainUnknown Failure to thrive; Exocrine pancreati...NM_000492.4:c.1520_1522delHomozygousAutosomal, RecessiveEskandarani, 2002 3 patients from a fa...
219700.G.1.4BahrainUnknown Failure to thrive; Exocrine pancreat...NM_000492.3:c.1911delHomozygousAutosomal, RecessiveEskandarani, 2002 5 patients from 4 fa...
219700.G.2.1KuwaitUnknown Elevated sweat chlorideNM_000492.4:c.1520_1522delAutosomal, RecessiveSamilchuk, 2005 Unknown number of pa...
219700.G.2.2KuwaitUnknown Elevated sweat chlorideNM_000492.3:c.1646G>AAutosomal, RecessiveSamilchuk, 2005 Unknown number of pa...
219700.G.2.3KuwaitUnknown Elevated sweat chlorideNM_000492.3:c.3846G>AAutosomal, RecessiveSamilchuk, 2005 Unknown number of pa...
219700.G.2.4KuwaitUnknown Elevated sweat chlorideNM_000492.3:c.1418delAutosomal, RecessiveSamilchuk, 2005 Unknown number of pa...
219700.G.2.5KuwaitUnknown Elevated sweat chlorideNM_000492.3:c.3700A>GAutosomal, RecessiveSamilchuk, 2005 Unknown number of pa...
219700.G.2.6KuwaitUnknown Elevated sweat chlorideNM_000492.3:c.2988+1G>AAutosomal, RecessiveSamilchuk, 2005 Unknown number of pa...
219700.G.2.7KuwaitUnknown Elevated sweat chlorideNM_000492.3:c.382T>CAutosomal, RecessiveSamilchuk, 2005 Unknown number of pa...
219700.G.2.8KuwaitUnknown Elevated sweat chlorideNM_000492.3:c.1517T>CAutosomal, RecessiveSamilchuk, 2005 Unknown number of pa...
219700.G.3.1OmanUnknownNo Elevated sweat chlorideNM_000492.3:c.1647T>GHomozygousAutosomal, RecessiveFrossard et al. 2000a 11 patients from 10 ...
219700.G.3.2OmanUnknownNo Elevated sweat chlorideNM_000492.4:c.1520_1522delHomozygousAutosomal, RecessiveFrossard et al. 2000a 2 unrelated patients...
219700.G.4QatarUnknownNo Elevated sweat chloride; Recurrent uppe...NM_000492.3:c.3700A>GHomozygousAutosomal, RecessiveWahab et al. 2004b 36 patients from 20 ...
219700.G.5QatarUnknownNo Elevated sweat chloride; Recurrent up...NM_000492.3:c.3700A>GHomozygousAutosomal, RecessiveAbdel Rahman et al. 2006 40 patients from a l...
219700.G.6.1TunisiaUnknownNo Elevated sweat chlorideNM_000492.4:c.1520_1522delHomozygousAutosomal, RecessiveMessaoud et al. 2005 115 patients from un...
219700.G.6.2TunisiaUnknownNo Elevated sweat chlorideNM_000492.4:c.1520_1522delHeterozygousAutosomal, RecessiveMessaoud et al. 2005 44 patients from unr...
219700.G.6.3TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.1624G>THomozygousAutosomal, RecessiveMessaoud et al. 2005 17 patients from unr...
219700.G.6.4TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.1624G>THeterozygousAutosomal, RecessiveMessaoud et al. 2005 9 patients from unre...
219700.G.6.5TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.3846G>AHomozygousAutosomal, RecessiveMessaoud et al. 2005 16 patients from unr...
219700.G.6.6TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.3846G>AHeterozygousAutosomal, RecessiveMessaoud et al. 2005 4 patients from unre...
219700.G.6.7TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.3909C>GHomozygousAutosomal, RecessiveMessaoud et al. 2005 10 patients from unr...
219700.G.6.8TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.3909C>GHeterozygousAutosomal, RecessiveMessaoud et al. 2005 12 patients from unr...
219700.G.6.9TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.579+1G>THeterozygousAutosomal, RecessiveMessaoud et al. 2005 10 patients from unr...
219700.G.6.10TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.579+1G>THeterozygousAutosomal, RecessiveMessaoud et al. 2005 3 patients from unre...
219700.G.6.11TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.2634_2641delHomozygousAutosomal, RecessiveMessaoud et al. 2005 2 patients from unre...
219700.G.6.12TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.2634_2641delHeterozygousAutosomal, RecessiveMessaoud et al. 2005 6 patients from unre...
219700.G.6.13TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.3310G>THomozygousAutosomal, RecessiveMessaoud et al. 2005 2 patients from unre...
219700.G.6.14TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.3310G>THeterozygousAutosomal, RecessiveMessaoud et al. 2005 5 patients from unre...
219700.G.6.15TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.254G>AHomozygousAutosomal, RecessiveMessaoud et al. 2005 2 patients from unre...
219700.G.6.16TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.254G>AHeterozygousAutosomal, RecessiveMessaoud et al. 2005 2 patients from unre...
219700.G.6.17TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.3808G>AHeterozygousAutosomal, RecessiveMessaoud et al. 2005 2 patients from unre...
219700.G.6.18TunisiaUnknownNo Elevated sweat chlorideNM_000492.3:c.220C>THeterozygousAutosomal, RecessiveMessaoud et al. 2005 2 patients from unre...
219700.G.7.1United Arab EmiratesUnknownNo Elevated sweat chlorideNM_000492.3:c.1647T>GHomozygousAutosomal, RecessiveFrossard et al. 1998 15 patients from 10 ...
219700.G.7.2United Arab EmiratesUnknownNo Elevated sweat chlorideNM_000492.4:c.1520_1522delHomozygousAutosomal, RecessiveFrossard et al. 1998 Unknown number of pa...
219700.G.9.1Saudi ArabiaNo Elevated sweat chloride; Failure to th...NM_000492.3:c.3700A>GHomozygousAutosomal, RecessiveBanjar, 2004; Banjar and Sakati, 2002 Two siblings comorbi...
219700.G.9.2Saudi ArabiaUnknownNo Elevated sweat chloride; Recurrent low...NM_000492.3:c.1418delHomozygousAutosomal, RecessiveBanjar, 2004 Twins comorbid for c...
219700.G.10Saudi ArabiaUnknownNo Elevated sweat chlorideNM_000492.3:c.2988+1G>AHomozygousAutosomal, RecessiveDörk et al. 1998 Three patients of Sa...
219700.G.11.1JordanUnknownNo Elevated sweat chloride; Failure to th...NM_000492.4:c.1520_1522delAutosomal, RecessiveKakish, 2001 Unknown number of in...
219700.G.11.2JordanUnknownNo Elevated sweat chloride; Failure to th...NM_000492.3:c.2279C>TAutosomal, RecessiveKakish, 2001 Unknown number of in...
219700.G.11.3JordanUnknownNo Elevated sweat chloride; Failure to t...NM_000492.3:c.164+9A>TAutosomal, RecessiveKakish, 2001 Unknown number of in...
219700.G.12Lebanon Elevated sweat chlorideNM_000492.3:c.3909C>G, NM_000492.4:c.744-33GATT[6], NM_000492.4:c.869+11C>TAutosomal, RecessiveFarhat et al, 2015 Patients from 7 Leba...
219700.G.13.1Lebanon Elevated sweat chlorideNM_000492.4:c.1520_1522delAutosomal, RecessiveFarra et al, 2010 Mutation identified ...
219700.G.13.2Lebanon Elevated sweat chlorideNM_000492.3:c.3909C>GAutosomal, RecessiveFarra et al, 2010 Mutation identified ...
219700.G.13.3Lebanon Elevated sweat chlorideNM_000492.3:c.3846G>AAutosomal, RecessiveFarra et al, 2010 Mutation identified ...
219700.G.13.4LebanonMale Elevated sweat chlorideNM_000492.3:c.11C>AAutosomal, RecessiveFarra et al, 2010 Mutation identified ...
219700.G.13.5LebanonNo Elevated sweat chlorideNM_000492.3:c.3879_3882ATTT[1]Autosomal, RecessiveFarra et al, 2010 CF patients from fam...
219700.G.14.1United Arab Emirates Elevated sweat chlorideNM_000492.3:c.1647T>GAutosomal, RecessiveShafiq et al.2021 11 patients (10 homo...
219700.G.14.2United Arab Emirates Elevated sweat chlorideNM_000492.4:c.1520_1522delAutosomal, RecessiveShafiq et al.2021 9 patients (8 homozy...
219700.G.14.3United Arab Emirates Elevated sweat chlorideNM_000492.4:c.3718-2477C>TAutosomal, RecessiveShafiq et al.2021 9 patients (5 homozy...
219700.G.14.4United Arab Emirates Elevated sweat chlorideNM_000492.4:c.80G>TAutosomal, RecessiveShafiq et al.2021 This variant was rep...
219700.G.14.5United Arab Emirates Elevated sweat chlorideNM_000492.3:c.274-2A>G, NM_000492.3:c.1418del, NM_000492.3:c.1646G>A, NM_000492.3:c.2988+1G>A, NM_000492.3:c.3700A>G, NM_000492.3:c.3909C>G, NM_000492.4:c.3540del, NM_000492.4:c.3472C>T, NM_000492.4:c.850dup, NM_000492.4:c.575A>T, NM_000492.4:c.1393-1G>A, NM_000492.4:c.3874-2A>GAutosomal, RecessiveShafiq et al.2021 Mutations reported w...
219700.G.15.1LebanonNM_000492.4:c.[744-33GATT(7);869+11C=;3909C=], NM_000492.4:c.[744-33GATT(7);869+11C>T;3909C=], NM_000492.4:c.[744-33GATT(6);869+11C>T;3909C>T]Autosomal, RecessiveFarhat et al. 2022 11 Lebanese CF patie...
219700.G.15.2Egypt Chronic lung disease; Exocrine pancreati...NM_000492.4:c.[744-33GATT(7);869+11C=;3909C=], NM_000492.4:c.[744-33GATT(6);869+11C>T;3909C=]Autosomal, RecessiveFarhat et al. 2022 50 Egyptian CF patie...

Other Reports

Bahrain

Khan and Mohammad (1985) performed a review study on patients diagnosed with CF in Bahrain during a 7-year period (1979-1984). A total of eight proven cases of CF (6 females, 2 males) were reviewed; ages ranging from 42 days to 5 months. All these patients fulfilled the classical criteria of CF - chronic pulmonary disease, exocrine pancreatic deficiency, and abnormally high sweat chloride levels. Five of these patients were from consanguineous families. Three patients died by the age of 6-months and five more by 14-months of age. [Khan IM, Mohammad AM. Muscoviscidosis (cystic fibrosis of the pancreas) in Bahrain, Arabian Gulf. Bahrain Med Bull. 1985; 7(1):17-23.]

Al Arrayed and Abdulla (1996) studied the incidence of cystic fibrosis in Bahrain retrospectively by reviewing the records of patients diagnosed for cystic fibrosis (CF) during a 17 years period in one hospital (1978-1994). The survey included a total of 27 patients (25 Bahrainis) with CF. The minimum incidence of CF was found to be 1:7,700. Male: female ratio was 1:1. All patients were diagnosed within the first year of life and 60% were diagnosed by three months of age. The consanguinity rate was high among the parents (80%). About four to six patients (19-22%) had sickle cell trait, one patient had sickle beta thalassemia, and 98% of patients had G6PD deficiency. The mortality rate was 60% as only 11 patients were alive by the time of the study.

Al-Mahroos (1998) performed a study to identify the incidence and evaluate the causes of high mortality among Bahraini children with cystic fibrosis (CF). During an 18 year period, 25 children with a mean age of two months were diagnosed to have CF. The incidence of CF in Bahrain is estimated to be 1:5,800 live births, while the prevalence is 3:100,000 individuals. Although CF in Bahraini children was considered to be phenotypically severe, a dramatic decline in mortality was noticed during the first year of life from 80% (1981-1985) to 50% (1986-1990) then to 9% (1991-1995).

Iraq

Kerem et al. (1995) reported that the incidence of CF and the frequency of disease-causing mutations varied considerably among Jewish ethnic subgroups. Among non-Ashkenazi Jews, the disease occured at a similar frequency as Jews from Libya (1:2700). It was found to be rare in Jews from Yemen (1:8800), Morocco, (1:15000), and Iraq (1:32000). Kerem et al. (1995) indicated that in each Jewish ethnic group, the disease is caused by a different repertoire of mutations.

Jordan

Kamal and Nazer (1984) carried out a pilot study to investigate cystic fibrosis (CF) among children in Jordan. Out of 15,314 children, 12 were diagnosed with CF - five suffered from meconium ileus and the other seven children were clinically diagnosed based on recurrent chest problems, failure to thrive, positive family history, and high levels of sweat chloride. Out of the five subjects with meconium ileus, two patients passed away following diagnosis while the other three children passed away during the post-operative phase.

Nazer (1992) conducted a prospective study in Jordan to screen for CF using the BM test for meconim albumin. The study consisted of 7,682 neonates from 10 different hospitals in Jordan; only four neonates presented a positive reaction to BM test strips. The diagnosis was confirmed in three subjects through sweat chloride test employing pilocarpine iontophoresis. The study revealed an incidence of 1 in 2560 live births for CF.

In 2002, Kakish (2002) conducted a retrospective study that included 72 patients with cystic fibrosis and revealed the presence of infantile hypertrophic pyloric stenosis (IHPS) in two of them. The incidence of 2.7% is greater than the 0.3% incidence expected in the general population. Kakish (2002) suggested that the nine fold increase in IHPS in patients with CF could be due to an association between the two disorders and warrants further investigation.

[See also: Kuwait > Kollberg, 1986].

Kuwait

Aluwihare et al. (1981) reported two CF patients (Kuwaiti and Syrian) with meconium ileus. Both patients were reported to have died, one postoperatively and the other at the age of 1 year due to recurrent chest infections.

During the period of 1980 to 1985, Kollberg (1986) reported 17 cases of CF in Kuwait. The cases included eight Kuwaitis, two Syrians, and one Jordanian.

Issa et al. (1988) reported three cystic fibrosis cases devoid of hyponatremia, metabolic alkalosis, and hypochloremia.

Between the period of 1979 to 1989, Farag and Teebi (1989) carried out a questionnaire survey in all Kuwaiti hospitals revealing 40 cases of CF in about 500,000 live births. Of the 40 cases, 26 subjects were found to be Bedouins or had Bedouin ancestors. [Farag TI, Teebi AS. Observations on cystic fibrosis (CF) in Kuwait. Am J Hum Genet. 1989; Suppl.4:A238.]

Lubani et al. (1991) reported two siblings suffering from CF and gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, intellectual disability, and other minor abnormalities. The subjects were born to second cousin Bedouin parents in Kuwait. Lubani et al. (1991) proposed the possibility of a new autosomal recessive cystic fibrosis-like syndrome.

Three Bedouin siblings suffering from CF were reported by Farag et al. (1994) at Al-Jahra Hospital in Kuwait. The three sibs were born to phenotypically normal first cousin Bedouin parents. PCR amplification was employed to examine six CF mutations (delta F508, delta I507, G542X, S549N, G551D, R553X), but none of the six mutations were detected in this Bedouin family. [Farag TI, Samilchuck E, AbulHasan S, Al-Awadi SA, Kandil H, Mady SA, El-Ghanem M. Cystic fibrosis in Kuwait and neighbouring populations. J Kuwait Med Assoc. 1994; 24(2):176-9.]

[See also: Qatar > Abdul Wahab et al., 2000; Wahab et al., 2004b].

Lebanon

Salem and Idresh (1962) reported the first case of CF in an Arab child from Lebanon. [Salem M, Idresh H. Cystic fibrosis in the Middle East. J Med Liban. 1962; 15:61-74.]

Libya

[See: Iraq > Kerem et al., 1995].

Morocco

[See: Iraq > Kerem et al., 1995].

Oman

Rajab et al. (2005) undertook a study to estimate the prevalence of commonly diagnosed autosomal recessive diseases in Oman from 1993 to 2002. The study revealed that cystic fibrosis was diagnosed in 32 patients, with an observed incidence of 1 in 15,000 births.

[See also: Qatar > Abdul Wahab et al., 2000].

Qatar

Abdul Wahab et al. (1998) reviewed 35 cases (17 Qatari nationals) of bronchiectasis diagnosed in Qatar during a 12-year period. Four of these patients were recognized as probably having CF as the underlying cause for brochiectasis. Apart form the common symptom of cough, all four of these patients showed clubbing and a failure to thrive.

Abdul Wahab et al. (2000) undertook a study to describe 45 CF patients belonging to 32 families, diagnosed over a 12-year period at the Hamad Medical Corporation in Qatar. The study included patients from Qatar (31 patients), Saudi Arabia (four patients), Kuwait (one patient), UAE (one patient), Oman (one patient), and Yemen (one patient). All 31 Qatari cases belonged to the same Bedouin tribe. The study also included non-Arabic-Asian families from Pakistan (four patients) and Iran (two patients). Parental consanguinity was observed in 44 cases (98%) and a family history of CF in 27 cases (60%). By reviewing the medical records of these patients, Abdul Wahab et al. (2000) found that the majority of cases presented early in life with respiratory symptoms that included cough, repeated chest infections and a bronchiolitis-like picture. Laboratory findings revealed that 17 (38%) patients of the same Bedouin tribe had metabolic alkalosis and/or hypo-electrolytemia, prompting Abdul Wahab et al. (2000) to suggest that metabolic alkalosis might be a relatively common manifestation of CF during infancy in arid climates.

[See also: Syria > Wahab et al., 2002; Egypt > Wahab et al., 2004a].

Saudi Arabia

In 1986, Kollberg reported a male patient suffering from CF; he was the second child of consanguineous Saudi Arabian parents.

Although CF had been thought to be very rare in Arabs, Nazer et al. (1989) documented CF in 13 children from Saudi Arabia. Duration of symptoms prior to diagnosis varied from 1 month-5 years (mean 23 months). The main clinical manifestations of the children were abdominal distention, failure to thrive, steatorrhea, hepatomegaly, rectal prolapse and recurrent respiratory infections, often with Pseudomonas aeruginosa.

Al Umran et al. (1989) reported three cases of CF in three indigenous Saudi families. Among the three reported cases, two patients were born to first cousin parents.The third patient was a female born by Cesarean section due to fetal intestinal obstruction, which was diagnosed through ultrasound.

During the period of 1980 to 1987, Mathew et al. (1991) reported 10 Saudi Arabian children who were suspected of having CF. Out of these 10 children, five were confirmed of having CF with hypoelectrolytemia and metabolic alkalosis on initial presentation.

Al Arrayed and Abdulla (1996) described a Saudi patient in a retrospective study carried out to calculate the incidence of cystic fibrosis in Bahrain. [See: Bahrain > Al Arrayed and Abdulla, 1996]

Banjar and Mogarri (1998) reported the demographic and clinical data of 84 Saudi patients (49 males and 35 females) with CF who were admitted to a referral center in Saudi Arabia during a 12 year period. Following diagnosis, ten patients died due to respiratory failure and four were lost to follow-up, but were later confirmed to be dead. Of the remaining 70 patients, approximately 80-90% of them presented with cough, wheezing, repeated chest infection, failure to thrive, or diarrhea (a sign of pancreatic insufficiency). Meconium ileus was found in 4% of the patients. Consanguinity was noticed in 78%, whereas family history of CF was recorded in 52% of the subjects.  Pseudomonas aeruginosa was found in more than 50% of the subjects. [Banjar H, Mogarri I. Demographic and clinical data of cystic fibrosis patients in a tertiary care centre in Saudi Arabia. Emirates Med J. 1998; 16(3):166-9.]

In 2003, Banjar (2003b) reported a 10-year-old male patient with type III Ehlers-Danlos syndrome (EDS) and CF. The patient had a history of recurrent chest infection and was diagnosed with cystic fibrosis due to elevated sweat chloride tests (96 and 114 mmol/L). Pulmonary function tests revealed severe obstructive lung disease and air-trapping. He had pectus carinatum, severed clubbing, hypermobility of all joints, and elastic skin. His mother and two paternal aunts reportedly had hypermobile joints. The patient died from respiratory failure. Since EDS caused the abnormal elasticity of the lung, the patient suffered from a progressive course of cystic fibrosis. [Banjar H. Simultaneous occurrence of cystic fibrosis and Ehlers-Danlos Syndrome. Emirates Med J. 2003b; 21(1):105.]

The same year, Banjar et al. (2003c) studied the factors that contributed to mortality related to cystic fibrosis in the Saudi population by analysing the records of patients who registered with CF at the only referral centre in the country. A total of 183 patients (51% males) were diagnosed with CF between 1985 and 2003. At the time of study, 81% of these patients were alive. About 65% of these patients were found to be in the mild to moderate malnutrition stage for their weight/height. The weight/height, albumin levels, high HCT, low MCHC, low MCV, and development of Pseudomonas resistance to antibiotics were found to be the most significant factors contributing to progressive lung disease. The study showed that mortality from CF is largely dependent on early diagnosis, proper management, and nutritional rehabilitation. In addition, early development of multi-drug resistant Pseudomonas also played a large part in the mortality. Banjar (2003c) suggested an intermittent gentamicin nebulization treatment instead of a continuous regimen for management of the disease.

In 2004, Banjar (2004a) reviewed the comorbidity of CF with other disorders for a period of 10 years. CF patients in the study group presented with SCD, IDDM, CAH, and Ehler's Danlos syndrome. The study included 190 patients consisting of 99 males and 91 females, with a mean age of diagnosis of 2.88 +/- 3.5 years, a period of follow-up of 3 +/- 3 years, and a mean survival of 11 years. Consanguinity was reported in 88% of cases. At the time of the study, out of 190 CF cases, 26 patients had passed away. The same year, Banjar (2004b) reviewed the details of all patients referred to a CF clinic in Saudi Arabia between 1994 and 1998 to study the detailed microbiological data. A total of 96 CF patients (52% male, mean age: 2.9 years) were diagnosed in this time period. The most common bacteria found in the first culture were Pseudomonas aeruginosa (44%), Haemophilus influenza (17%), Staphylococcus aureus (15%), Streptococcus pneumonia (6%), MRSA (4%), Branhamella catarrhalis (6%), and RSV (1%). In the second positive follow-up culture, the Branhamella culture doubled to 13%, while MRSA rose to 6%. The shortest lifespan was observed in patients who had P. aeruginosa and were resistant to gentamicin. [Banjar HH. Microbiological data of cystic fibrosis patients in a tertiary care center in Saudi Arabia. Kuwait Med J. 2004b; 36(3):177-81.]

[See also: Qatar > Abdul Wahab et al., 2000; Wahab et al., 2004b].

Syria

Al Arrayed and Abdulla (1996) described a Syrian patient in a retrospective study carried out to calculate the incidence of cystic fibrosis in Bahrain. [See: Bahrain > Al Arrayed and Abdulla, 1996]

Al-Mahroos (1998) described a Bahraini patient of Syrian origin with cystic fibrosis. [See also: Bahrain > Al-Mahroos, 1998].

[See also: Kuwait > Aluwihare et al., 1981; Kollberg, 1986].

United Arab Emirates

Benson et al. (1987) were the first to report cystic fibrosis (CF) in a UAE national. The patient was born to first cousin Emirati parents of Baluch descent. Diarrhea was reported in the patient at an early age, while persistent coughing was noted at six months with no response to antibiotic treatment. Chest X-rays revealed hyperinflated lungs and sweat chloride test performed twice showed elevated concentrations. Following Pancreatin treatment, diarrhea improved markedly. [Benson PF, Fahmy NA, Vaswani K, Semrin A. Cystic fibrosis in the United Arab Emirates - a case report. Emirates Med J. 1987; 5:156-7.]

Dawson and Frossard (1994) described the clinical features of cystic fibrosis (CF) in eight Emirati children (six females and two males) based on patient history, laboratory findings, clinical features, and sweat chloride test results. The patients belonged to six sibships and all of them had strikingly elevated sweat chloride concentrations and pancreatic insufficiency. [Dawson KP, Frossard P. Cystic fibrosis in the United Arab Emirates: I - Clinical presentation. Emirates Med J. 1994; 12:245-7.]

One year later, in a follow-up study Dawson and Frossard (1995) reported three more children with CF. Dawson and Frossard (1995) indicated that the disease is more prevalent and present in the severe, multisystem form in the UAE. 

Frossard et al. 1999 estimated the prevalence of CF in the UAE to be 1:15876 

[See also: Qatar > Abdul Wahab et al., 2000].

Yemen

[See: Iraq > Kerem et al., 1995; Qatar > Abdul Wahab et al., 2000].

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