Diarrhea 3, Secretory Sodium, Congenital, with or without Other Congenital Anomalies

Alternative Names

  • DIAR3
  • Sodium Diarrhea, Congenital
  • CSD
  • Diarrhea 3, Secretory Sodium, Congenital, Syndromic
Back to search Result
WHO-ICD-10 version:2010

Certain conditions originating in the perinatal period

Digestive system disorders of fetus and newborn

OMIM Number

270420

Mode of Inheritance

Autosomal recessive

Gene Map Locus

19q13.2

Description

Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies (DIAR3) is a rare autosomal disorder, characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.  It is caused by a functional defect in one of the sodium/proton exchangers localized to the apical membrane of small intestinal epithelial cells.  Diagnosis of DIAR3 is based on the findings of a life-threatening secretory diarrhea, severe metabolic acidosis, and hyponatremia secondary to extraordinarily high fecal losses of sodium, with low or normal excretion of urinary sodium.  So far, less than 15 patients have been described worldwide.

 

Molecular Genetics

Mutations in the SPINT2 gene have been identified in patients with diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies.  This gene was mapped to chromosome 19q13.2 with seven coding exons; it encodes a transmembrane protein, with two extracellular Kunitz domains, which inhibits a variety of serine proteases.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
270420.1.1United Arab EmiratesFemaleYesYes Diarrhea; Membranous choanal atresia; Hy...NM_021102.4:c.443G>AHomozygousAutosomal, RecessiveBou Chaaya et al. 2017 The patient had an o...
613217.23.1AlgeriaMaleYesYes Intractable diarrhea; Punctate keratitisNM_021102.4:c.502G>AHomozygousAutosomal, RecessiveSalomon et al. 2014
613217.23.2AlgeriaFemaleYesYes Intractable diarrhea; Punctate keratitisNM_021102.4:c.502G>AHomozygousAutosomal, RecessiveSalomon et al. 2014 Relative of 613217.2...

Other Reports

Saudi Arabia

Al Makadma et al. (2004) described a pre-term baby boy, who had severe watery diarrhea with severe oliguria and acute renal failure.  He was born to non-consanguineous parents with weight birth of 1.4 kg.  On the first day of life, he had abdominal distention and did not pass any meconium, and had small bowel obstruction.  Few weeks later, he developed hyponatremia, normal anion gap metabolic acidosis, and developed signs of dehydration; he had severe hypotension with weight loss from 1.33 to 1.05 kg.  He also had acute tubular necrosis.  The newborn was put on fluid therapy with sodium and bicarbonate, along with dopamine to improve renal perfusion.  At the age of five months, he was doing well with a weight of 4 kg.

© CAGS 2024. All rights reserved.