glomerulocystic kidney diseases

Synopsis

 enlarged, normal or hypoplastic kidneys
 glomerular cysts

• renal cortex extensively replaced by spherical cysts containing eccentrically and shrunken glomerular tufts
• cystic dilatation of the Bowman space
• cystic dilatation of the initial proximal convoluted tubule
• glomerular tufts reduced, rudimentary or collapsed
• Bowman capsules epithelium flattened
• periglomerular fibrosis
• diffuse mild interstitial fibrosis

 lack of renal dysplastic elements

 absence of renal papillae
 no extrarenal malformations

• no congenital hepatic fibrosis
• no bile ductule proliferation

Associations

 Henoch-Schoenlein purpura (12036200)

Types

 I. Isolated GCKD

• Ia. sporadic GCKD
• Ib. non syndromal familial GCKD
  • autosomal dominant hypoplastic glomerulocystic disease (MIM.137920)
    • mutation in the gene encoding hepatocyte nuclear factor-1-beta (TCF2) or HNF1B (MIM.189907) (with diabetes)

II. GCKD associated with malformatives syndromes

 tuberous sclerosis
 orofaciodigital syndromes (OFDs)
 brachymesomelia-renal syndrome
 trisomy 13
 short-rib polydactyly syndromes (SRPSs)

• short-rib polydactyly syndrome type 2 (SRPS2) (Majewski type) (7491205)

 Jeune syndrome
 familial juvenile nephronophtisis (chronic progressive tubulointerstitial disease)

III. GCKD with renal dysplasia

IV. GCKD after hemolytic-uremic syndrome

References

 Bernstein J. Glomerulocystic kidney disease-nosological considerations. Pediatr Nephrol1993; 7: 464-470 PMID: 8398663