Major Groups of Cystic Nephropathies
Disorder | Clinical Features |
|---|---|
Autosomal dominant | |
Flank and abdominal pain Large kidneys with multiple bilateral cysts Extrarenal cysts (liver, pancreas, intestine) Cerebral aneurysms ESKD during adulthood | |
Branchio-oto-renal syndrome (BOR syndrome or Melnick-Fraser syndrome) | Branchial fistulas and cysts Preauricular pits or tags Hearing loss |
Familial renal hamartomas | Primary hyperparathyroidism Ossifying fibromas of the jaw |
Autosomal dominant tubulointerstitial kidney disease (ADTKD) | Small to normal-sized kidneys Polydipsia and polyuria Absent-to-mild proteinuria Bland urinary sediment No severe hypertension during early stages Nocturia or enuresis in children ESKD during adulthood Gout for most variants |
Benign tumors of the brain, kidneys, and skin Angiomyolipomas of the kidneys | |
Hemangioblastoma proliferation in the retina, brain, spinal cord, and adrenal glands | |
Autosomal recessive | |
Alström syndrome | |
Autosomal recessive polycystic kidney disease | Large kidneys with multiple bilateral cysts ESKD during childhood |
Bardet-Biedl syndrome | Intellectual disability Retinopathy Obesity Polydactyly |
Ellis–van Creveld syndrome | Short-limb dwarfism Heart defects frequently |
Ivemark syndrome | Spleen agenesis Cyanotic heart disease Gut malrotation |
Jeune syndrome (asphyxiating thoracic dystrophy) | Dwarfism involving the chest, arms, and legs |
Joubert syndrome | Intellectual disability Hypotonia Irregular breathing Eye movement abnormalities |
Meckel-Gruber syndrome | Occipital encephalocele Polydactyly Craniofacial dysplasia |
Small to normal-sized kidneys Polydipsia and polyuria Mild proteinuria with benign urinary sediment ESKD possibly during childhood | |
Zellweger syndrome (cerebrohepatorenal syndrome) | Brain and liver defects Developmental delay Hypotonia |
Other congenital* | |
Cysts of nontubular origin (includes glomerular, subcapsular, and pyelocalyceal cysts) | Various clinical characteristics |
Malformation syndromes | Various clinical characteristics |
Tubular dilations and cysts of collecting ducts Associated renal tubular acidosis type 1 and renal calculi Does not progress to ESKD | |
Multicystic dysplastic kidney | Unilateral nonreniform mass of cysts and connective tissue, with typically absent functioning renal tissue |
Oral-facial-digital syndrome (can follow multiple inheritance patterns including X-linked, autosomal dominant, or autosomal recessive) | Partial clefts in lip, tongue, and alveolar ridges Hypoplasia of nasal cartilage Microcysts in kidneys |
Associated with urinary structural obstruction or metanephric malformation Degree of dysplasia asymmetric between kidneys | |
Profound developmental delay Malformations of the head, face, hands, and feet | |
Acquired | |
Multiple cysts Associated with long-term dialysis, usually after > 10 years High risk of renal cell carcinoma | |
Cysts associated with tumors | For example, with renal cell carcinoma or nephroblastoma |
Solitary simple cysts | Low risk of chronic kidney disease and hypertension Associated with aging |
* Caused by, eg, sporadic mutations, chromosomal abnormalities, teratogens, or unknown mechanisms. | |
ESKD = end-stage kidney disease. | |