Glomerulopathy with Fibronectin Deposits 2

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OMIM 57 601894 Orphanet 59 ORPHA84090 UMLS via Orphanet 74 C3888104 C1866075 ICD10 via Orphanet 34 N07.6

MedGen 42 C1866075 KEGG 37 H01260 SNOMED-CT via HPO 69 263681008 236423003 42399005 29738008 52254009 24184005 38341003 230706003 274100004 197940006 119247004 433146000 41607009 702391001 102572006 197679002 more UMLS 73 C1866075 C3888104 C0403556 C0403557 more

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 84090Disease definitionFibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.EpidemiologyIt is a very rare disease. The exact prevalence is unknown. Only 16 families have been described in the literature so far.Clinical descriptionFibronectin glomerulopathy may present at different ages, although mostly in adolescence or early adulthood, with typical features of a nephrotic syndrome including hypertension, which can be severe, and edema, which initially develops around the eyes and legs but with time may become generalized. Biochemical analysis shows microscopic hematuria and proteinuria with hypoalbuminemia. Patients may also present with varying degrees of renal failure that progressively worsen over several years, reaching end stage renal disease in the second to sixth decade of life.EtiologyClustering of the disease within families indicates a genetic origin, and segregation with disease appearance in successive generations is consistent with an autosomal dominant pattern of inheritance with age-related penetrance. In 40% of families the disease is caused by heterozygousmutations in the FN1 gene (2q34) encoding fibronectin. However, genetic heterogeneity is suspected. Whole-genomelinkage analysis in a large pedigree showed another disease locus on 1q32, however no specific candidate genes has been identified so far.Diagnostic methodsDiagnosis rests on renal biopsy. Typical findings at light microscopy are enlarged glomeruli with deposits in the mesangium and subendothelial space, with scant immunoreactivity for immunoglobulins or complement factors. Electron microscopy reveals deposits mainly located in the subendothelial space but also in the subepithelial and intramembranous spaces. Homogeneous granular deposits dominate in most cases; in some an admixture of fibrils is observed. The most striking finding is the immunoreactivity of the glomerular deposits to fibronectin. Family history is supportive of the diagnosis.Differential diagnosisDifferential diagnosis includes other chronic non-amyloid glomerulopathies with organized deposits including mixed cryoglobulinemia, fibrillary glomerulonephritis, immunotactoid glomerulopathy, collagen type III glomerulopathy, systemic lupus erythematosus (see these terms), diabetes glomerulopathy and other non-specific collagen deposition diseases. It is difficult to discriminate fibronectin glomerulopathy from membranoproliferative glomerulonephritis (see this term) at light microscopy examination. In all cases strong immunohistochemical positivity to fibronectin is mandatory for differential diagnosis.Genetic counselingGenetic counseling is useful for children of affected subjects with FN1 mutations to identify carriers that are at risk of developing the disease later in life. Monitoring these subjects for proteinuria could allow early treatment with angiotensin inhibitors to delay onset of renal dysfunction.Management and treatmentThere is no specific treatment for fibronectin glomerulopathy. Treatment of symptoms can include corticosteroids, diuretics and treatment for hypertension. Antiproteinuric and renoprotective treatment with ACE inhibitors or anti-AT1R antagonists could be of help to slow renal disease progression. More advanced cases of renal failure require renal dialysis or transplantation.PrognosisPrognosis is uncertain, in some cases the disease follows an indolent course and in others it leads to end stage renal disease and chronic renal failure in the second to sixth decade of life.Visit the Orphanet disease page for more resources.

MalaCards based summary : Glomerulopathy with Fibronectin Deposits 2, also known as fibronectin glomerulopathy, is related to glomerulopathy with fibronectin deposits 1 and tracheoesophageal fistula with or without esophageal atresia. An important gene associated with Glomerulopathy with Fibronectin Deposits 2 is FN1 (Fibronectin 1), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. Affiliated tissues include kidney and eye, and related phenotypes are hypertension and renal insufficiency

OMIM : ⁵⁷ Glomerulopathy with fibronectin deposits is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (Castelletti et al., 2008). For a discussion of genetic heterogeneity of GFND, see 137950. (601894)

UniProtKB/Swiss-Prot : ⁷⁵ Glomerulopathy with fibronectin deposits 2: Genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life.

Genetics Home Reference : ²⁵ Fibronectin glomerulopathy is a kidney disease that usually develops between early and mid-adulthood but can occur at any age. It eventually leads to irreversible kidney failure (end-stage renal disease).

Clinical features from OMIM:

601894

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