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Hereditary Nephropathies

Several forms of nephropathies and structural renal diseases (e.g. polycystic kidneys) have a hereditary basis. The exact etiopathogenetic mechanisms are not understood. Important features of some of the more common nephropathies are listed in Table 15.8. Specific treatment is not possible and there is steady progression to renal failure. Renal transplantation has been successfully carried out in many of these conditions.


Table: Common hereditary renal disorder


Important features

Alport syndrome

X-linked inheritance; mutations in gene encoding alpha subunit of collagen 4 (COL4A1). Microscopic/ gross hematuria, proteinuria; sensorineural deafness; ocular defects (lenticonus, cataract); progression to renal failure. Electron microscopy: variable thickness of glomerular basement membrane; marked attenuation to broadening and lamination.


AR inheritance; mutations in gene encoding nephrolysin (Neph 1, Neph 2, Neph 3). Polyuria, polydipsia; retinal degeneration; metabolic acidosis; anemia; progression to renal failure. Small kidneys with cysts on ultrasound, CT scans. Histology: tubular dilatation and atrophy, interstitial fibrosis; cysts located in collecting ducts. Electron microscopy: thickened, laminated tubular basement membrane

‘Finnish’ congenital nephrotic syndrome

AR; mutations in gene encoding nephrin (NPHS1). Congenital nephrotic syndrome (presenting first 3 months of life); failure to thrive; recurrent infections; progression to renal failure by 2-3 yr. Histology: microcystic dilation of proximal tubules. High levels of AFP in maternal serum and amniotic fluid

enable antenatal screening.

Denys-Drash syndrome

Mutations in WT1 gene. Congenital nephrotic syndrome; male pseudohermaphroditism; risk of bilateral Wilms' tumor. Histology: diffuse mesangial sclerosis.

AR autosomal recessive; AFP alpha-fetoprotein

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