[MIM 263 200]

(formerly: infantile polycystic disease)

Rare: prevalence 1/40,000. Cause of 1-2 % of the terminal kidney failures in childhood. Mutations in the PKHD1 gene (6p21.1-p12) coding for fibrocystin (or polyductin). However, mutations of the gene DZIPIL (3q22.3) [MIM 617 570], responsible for a dominant form of polycystic kidney disease may cause an autosomal recessive form with onset in childhood. Renal cysts develop only from the collector tubes ( honeycomb appearance of the parenchyma) and are associated with biliary dysgenesis resulting in hepatic impairment: periportal fibrosis, ectasia of intrahepatic biliary tracts (sometimes: Caroli disease, see this topic) and distal stenosis of branches of the portal vein which may remain asymptomatic or result in cholangitis and portal hypertension with preserved liver function.

There are 4 clinical forms:

-        antenatal (75 %): poor prognosis (oligohydramnios, growth retardation)

-        neonatal: respiratory distress due to pulmonary hypoplasia, nephromegaly, arterial hypertension (mortality: 15 % at 1 year); difficulty to concentrate urine with risk of hyponatremia in the first weeks of life. It is sometimes necessary to perform a binephrectomy (in one or two phases) to facilitate ventilation or control arterial hypertension. Risk of persistent hypotension and of neurologic complications (cerebral ischemia, optic neuropathy).

-        infantile: nephromegaly, hypertension since childhood with chronic renal failure at the age of 4 years and terminal failure around the age of 15 years (30 %).

-        juvenile: where the hepatic signs predominate.

Anesthetic implications:

anesthesia for an infant; peritoneal dialysis; careful evaluation of fluids losses and volemia; treatment of hypertension; check renal and hepatic function, electrolytes and total blood count (hypersplenism due to portal hypertension ?); difficult vascular access ; sequelae of chronic renal failure: short stature, osteodystrophy

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.
• Shukry M, De Armendi AJ. 
  Safe general anesthesia in a hyperkalemic infant. 
  Pediatr Anesth 2008; 18: 974-5. 
• Burgmaier K, Aricea G, Bald M, Buescher AK et al.
  Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease.
  Scientific Reports (Natureresearch) 2020; 10:16025, doi 10.1038/s41598-020-71956-1
• Overman RE, Criss CN, Modi ZJ, Gadepalli SK.
  Early nephrectomy in neonates with symptomatic autosomal polycystic kidney disease.
  J Pediatr Surg 2021; 56:328-31.

Updated: May 2021