Rare. Cystic disease of the kidney. Sporadic or autosomal dominant transmission of a mutation of the TCF2 gene (17q 11.2-q21.1) which codes for the HNF-1ß protein (hepatocyte nuclear factor-1 ß). This protein is a transcription factor that regulates genes involved in the formation of the primary cilium. Small (< 8mm) cysts develop only in the cortical zone, especially on the periphery, in the subcapsular zone.

Histology: cystic dilatation of the Bowman capsule, glomeruli and adjacent tubules.

Very heterogeneous clinical presentation:

-        sometimes antenatal presentation: large kidneys, oligohydramnios

-        children: small hyperechoic (hypoplasia), renal cysts, horseshoe kidney.

-        possible tubular anomalies: early hyperuricemia, polyuria, polydipsy due to a disorder of the concentration of the urine with hypomagnesemia and hypophosphatemia

-        MODY5 diabetes association:  non-insulin-dependent diabetes (RCAD syndrome: acronym for Renal Cyst And Diabetes MIM 137 920)

-        exocrine pancreatic insufficiency (hypoplasia of pancreas)

-        disturbance of liver function tests without jaundice nor hepatocellular failure

-        homolateral abnormalities of the genitalia: bicornuate uterus, hemivagin, agenesis of the vas deferens

-        slow evolution to renal failure: sometimes, sudden deterioration of renal function at the time of puberty if the kidneys are hypoplastic or in presence of a single kidney

-        increased risk of cancer: ovarian, kidney.

To be distinguished from the glomerulocystic kidneys found  in the context of either dominant familial polycystic disease, or polymalformative syndromes with renal and genital abnormalities.

Anesthetic implications: 

check blood pressure, renal and hepatic function. monitoring of blood glucose

References : 

-         Bonsib SM. 
The classification of renal cystic diseases and other congenital malformations of the kidney and urinary tract. 
Arch Pathol Lab Med 2010; 134:554-68.

-        Avni F. 
Renal cystic diseases in children: new concepts. 
Pediatr Radiol 2010; 40: 939-46.

-        Brochard K, Decramer S. 
Reins kystiques de l’enfant. 
Néphrologie et Thérapeutique 2010 ; 6 : 272-9.

Updated: October 2018