Focal Segmental Glomerulosclerosis 1

Alternative Names

  • FSGS1
  • Glomerulosclerosis, Focal Segmental, 1
  • Glomerulosclerosis, Focal Segmental
  • FSGS
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WHO-ICD-10 version:2010

Diseases of the genitourinary system

Glomerular diseases

OMIM Number

603278

Mode of Inheritance

Both autosomal dominant and recessive patterns observed

Gene Map Locus

19q13

Description

Focal segmental glomerulosclerosis (FSGS) is a disease typified by formation of scar tissue in some of the glomeruli of the kidney. The disease may develop from a systemic disorder, or as an idiopathic kidney disease. The major symptom associated with FSGS is proteinuria. However, in children, it usually presents as nephrotic syndrome, characterized by hypoalbuminemia, hyperlipidemia, and hypertension. In fact, about 10-15% cases of proteinuria are attributed to FSGS. This is a serious disease, with most patients tending to progress towards long term, chronic renal failure, and end stage renal disease over a period of 5 to20 years.

Since proteinuria is associated with many other diseases involving the kidney, it cannot be used as the sole diagnostic factor for FSGS. Histopathological studies on kidney biopsies are most useful in this case. The biopsy may show scarring of some parts, as well as positive staining for antibody IgM. Management of the disease involves administration of corticosteroids and immunosuppressants. ACE inhibitors and diuretics can be used to control the associated hypertension. However, the benefit of treatment varies among individuals. In most cases, patients with FSGS proceed towards chronic renal failure.

Molecular Genetics

It has been suggested that the molecular basis of development of FSGS may be related to macrophages or a circulating factor in the plasma. Other studies propose that FSGS is a disorder of mesangial extracellular matrix metabolism. Although FSGS is not typically a familial disease, a large number of cases of the disease worldwide have been seen to occur in families. The genetic basis of this familial form of FSGS is unknown. However, linkage analysis has mapped the autosomal dominant condition to the alpha-actinin gene at locus 19q13, and the recessive form to a locus on chromosome 1q.

Epidemiology in the Arab World

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Other Reports

Bahrain

In 2004, Al Arrayed et al. studied 498 renal biopsies obtained from patients with proteinuria, hematuria, and mild to moderate renal impairment during a period of 13 years (between January 1990 and December 2002) at a tertiary care hospital. Primary glomerular disease accounted for two-thirds of the glomerular diseases, which was 44.8% of all renal biopsies. The most common histological lesion was minimal change disease (30%). Focal segmental glomerulosclerosis was the second most common lesion (23.8%) followed by membranoproliferative glomerulonephritis (14.3%).

In 2007, Arrayed et al. attempted to establish the incidence of renal diseases in Bahrain during January 2003 through October 2006, based on biopsy results. This study continued a previous biopsy-based survey covering 13 years from January 1990 through December 2002 (Al Arrayed et al., 2004). They included 145 biopsies on 130 patients, of whom glomerular diseases constituted 64.8%; transplant biopsies, 23.4%; chronic glomerulosclerosis, 8.9%; and other etiologies, 4.1%. The pattern of primary glomerular diseases showed the minimal change disease--focal segmental glomerulosclerosis (MCD-FSGS) complex--remained the most common of all primary glomerular diseases, although decreased in absolute numbers compared with the previous study.

Oman

Al-Gazali and Amirlak (1997) described a multiply consanguineous family of Omani origin with five children in two sibships affected with an early-onset steroid resistant nephropathy progressing to renal failure. The proband was a female who presented at 6-years of age with intermittent periorbital edema, proteinuria, microscopic hematuria, and stunted growth. TThe patient had two younger siblings of either sex who were similarly affected. An older brother had earlier died of renal failure before the age of 3-years. Another cousin, also born to consanguineous parents, was also affected, although his disease progression was more severe, with third stage renal failure by 11-months of age. 

Qatar

Akl and Zayyoud (1983) reviewed the medical records of 83 children who presented with renal disease in Qatar during a single year period. Of the 31 children who presented with nephrotic syndrome, two (7%) were diagnosed with focal glomerulosclerosis. One of these patients was found to be edema free in spite of high proteinuria. However, when he was put on steroids, he became edematous, and the proteinuria worsened. [Akl K, Zayyoud M. The spectrum of childhood kidney disease in Qatar. Qatar Med J. 1983; 4(2):95-7.]

Ehlayel and Akl (1992) reviewed the records of all patients in Qatar diagnosed with chronic renal failure between the years 1982 and 1990. Of the total of 30 such cases, two patients were found to have been diagnosed with focal glomerulosclerosis.

United Arab Emirates

Yahya et al. (1998) conducted a retrospective histopathologic analysis of 490 native kidney biopsies performed on adult patients presenting to four hospitals in the Emirate of Abu Dhabi from 1978 to June 1996. Focal segmental glomerulosclerosis was seen in 18.3% of the patients. 

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