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Glomerulopathy with fibronectin deposits 1(GFND1)

MedGen UID:
98017
•Concept ID:
C0403557
•
Disease or Syndrome
Synonyms: Familial lobular glomerulopathy; GFND1; Glomerulopathy with giant fibrillar deposits
SNOMED CT: Glomerulopathy with fibronectin deposits 1 (236535001); Glomerulopathy with giant fibrillar deposits (236535001)
 
Monarch Initiative: MONDO:0024527
OMIM®: 137950

Definition

Glomerulopathy with fibronectin deposits (GFND) 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 (FN1; 135600) (Castelletti et al., 2008). Genetic Heterogeneity of Glomerulopathy with Fibronectin Deposits The GFND1 locus maps to chromosome 1q32. See also GFND2 (601894), which is caused by mutation in the FN1 gene (135600) on chromosome 2q35. [from OMIM]

Clinical features

From HPO
Kidney disorder
MedGen UID:
9635
•Concept ID:
C0022658
•
Disease or Syndrome
A nonspecific term referring to disease or damage of the kidneys.
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Nephrotic syndrome
MedGen UID:
10308
•Concept ID:
C0027726
•
Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
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Proteinuria
MedGen UID:
10976
•Concept ID:
C0033687
•
Finding
Increased levels of protein in the urine.
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Microscopic hematuria
MedGen UID:
65997
•Concept ID:
C0239937
•
Finding
Microscopic hematuria detected by dipstick or microscopic examination of the urine.
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Glomerulopathy
MedGen UID:
451033
•Concept ID:
C0268731
•
Disease or Syndrome
Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.
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Renal insufficiency
MedGen UID:
332529
•Concept ID:
C1565489
•
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
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Stage 5 chronic kidney disease
MedGen UID:
384526
•Concept ID:
C2316810
•
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
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Glomerular fibronectin deposits
MedGen UID:
1863447
•Concept ID:
C5937206
•
Finding
Accumulation of fibronectin in the glomerulus.
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Hypertensive disorder
MedGen UID:
6969
•Concept ID:
C0020538
•
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
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Acidosis
MedGen UID:
1296
•Concept ID:
C0001122
•
Pathologic Function
Abnormal acid accumulation or depletion of base.
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Recent clinical studies

Etiology

Fibrillary glomerulonephritis associated with limited scleroderma: a case report.
Nakhoul GN, Simon JF
Clin Nephrol 2016 Apr;85(4):235-7. doi: 10.5414/CN108723. PMID: 26709524

Diagnosis

Fibrillary glomerulonephritis associated with limited scleroderma: a case report.
Nakhoul GN, Simon JF
Clin Nephrol 2016 Apr;85(4):235-7. doi: 10.5414/CN108723. PMID: 26709524

Prognosis

Fibrillary glomerulonephritis associated with limited scleroderma: a case report.
Nakhoul GN, Simon JF
Clin Nephrol 2016 Apr;85(4):235-7. doi: 10.5414/CN108723. PMID: 26709524

Clinical prediction guides

Familial glomerulopathy with giant fibrillar deposits.
Bürgin M, Hofmann E, Reutter FW, Gürtler BA, Matter L, Briner J, Gloor F
Virchows Arch A Pathol Anat Histol 1980;388(3):313-26. doi: 10.1007/BF00430861. PMID: 7001730

Supplemental Content

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