Renal cysts have been described in a number of different malformation syndromes:
Autosomal dominant conditions
Tuberous
sclerosis can be associated with ADPKD as a contiguous
gene syndrome. Tuberous sclerosis is characterised by epilepsy, mental
retardation, skin lesions, hamartomas, angiofibromas and intraventricular
calcifications.
Von Hippel-Lindau disease is associated with angiomatous
lesions of the brain and retina. In addition to polycystic kidneys, cysts
may also be seen in the pancreas.
Autosomal recessive conditions
Meckel syndrome
is characterised by occipital encephalocoele, polydactyly, other CNS
abnormalities as well as large, polycystic kidneys.
Zellweger syndrome produces a characteristic facial appearance, hypotonia,
growth retardation, heart defects, cirrhosis and cystic abnormalities of the
kidneys. It is the result of a peroxisomal disorder.
Glutaric acidaemia type II produces cystic kidneys in association with a odour
resembling sweaty feet, CNS problems and cholestasis associated with hypoplastic
bile ducts.
Biedl-Bardet syndrome presents as mental retardation, obesity, retinal dysplasia
and polydactyly. Medullary cystic disease or polycystic kidneys may also
be found.
Jeune syndrome or asphyxiating thoracic dystrophy presents with pulmonary
dysfunction and short limbs. Kidney problems may manifest as tubulointerstitial nephropathy but occasionally with diffuse cystic disease.
X linked recessive conditions
Orofacial digital syndrome type I is characterised by webbing between the buccal
mucosa and alveolar ridge, teeth anomalies, cleft lip, asymmetric short digits
and hypoplasia of the alar cartilage. There may also be diffuse cystic
renal disease.
Chromosomal abnormalities
Severe chromosomal disorders (trisomy 9, 13, 18, 21) may be associated with
renal anomalies including cystic dysplasia.