Glomerulopathy with Fibronectin Deposits 2 (GFND2)

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OMIM 58 601894 KEGG 38 H01260 ICD10 via Orphanet 35 N07.6 UMLS via Orphanet 75 C1866075 C3888104

Orphanet 60 ORPHA84090 MedGen 43 C1866075 SNOMED-CT via HPO 70 102572006 119247004 12068006 197679002 197940006 230706003 236423003 24184005 263681008 274100004 29738008 38341003 41607009 42399005 433146000 447072005 52254009 62730001 702391001 more UMLS 74 C0403556 C0403557 C1866075 C3888104 more

NIH Rare Diseases : ⁵⁴ 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 nephrotic syndrome. 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

Genetics Home Reference : ²⁶ 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).

OMIM : ⁵⁸ 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 : ⁷⁶ 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.

Clinical features from OMIM:

601894

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