Overview of Cystic Kidney Disease
Cystic kidney disease may be congenital or acquired. Congenital disorders may be inherited as autosomal dominant disorders or autosomal recessive disorders or have other causes (eg, sporadic mutations, chromosomal abnormalities, teratogens). Some are part of a malformation syndrome (see table Major Groups of Cystic Nephropathies).
Major Groups of Cystic Nephropathies
Disorder |
Clinical Features |
Autosomal dominant |
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Flank and abdominal pain Large kidneys with multiple bilateral cysts Extrarenal cysts (liver, pancreas, intestine) Cerebral aneurysms ESRD during adulthood if at all |
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Branchio-oto-renal syndrome (Melnick-Fraser syndrome) |
Branchial fistulas and cysts Preauricular pits or tags Hearing loss |
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Familial renal hamartomas |
Primary hyperparathyroidism Ossifying fibromas of the jaw |
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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 ESRD during adulthood Sometimes gout |
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Oral-facial-digital syndrome |
Partial clefts in lip, tongue, and alveolar ridges Hypoplasia of nasal cartilage Microcysts in kidneys |
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Benign tumors of the brain, kidneys, and skin Angiomyolipomas of the kidneys |
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Hemangioblastoma proliferation in the retina, brain, spinal cord, and adrenal glands |
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Autosomal recessive |
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Alström syndrome |
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Autosomal recessive polycystic kidney disease |
Large kidneys with multiple bilateral cysts ESRD during childhood |
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Bardet-Biedl syndrome |
Intellectual disability Retinopathy Obesity Polydactyly |
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Ellis–van Creveld syndrome |
Short-limb dwarfism Heart defects frequently |
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Ivemark syndrome |
Spleen agenesis Cyanotic heart disease Gut malrotation |
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Jeune syndrome (asphyxiating thoracic dystrophy) |
Dwarfism involving the chest, arms, and legs |
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Joubert syndrome |
Intellectual disability Hypotonia Irregular breathing Eye movement abnormalities |
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Meckel-Gruber syndrome |
Occipital encephalocele Polydactyly Craniofacial dysplasia |
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Small to normal-sized kidneys Polydipsia and polyuria Mild proteinuria with benign urinary sediment ESRD possibly during childhood |
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Zellweger syndrome(cerebrohepatorenal syndrome) |
Brain and liver defects Developmental delay High serum iron and copper levels Hypotonia |
Other congenital* |
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Cysts of nontubular origin (includes glomerular, subcapsular, and pyelocalyceal cysts) |
Various clinical characteristics |
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Malformation syndromes |
Various clinical characteristics |
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Tubular dilations and cysts of collecting ducts Associated renal tubular acidosis type 1 and renal calculi Does not progress to ESRD |
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Multicystic dysplastic kidney |
Unilateral nonreniform mass of cysts and connective tissue, with typically absent functioning renal tissue |
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Associated with urinary structural obstruction or metanephric malformation Degree of dysplasia asymmetric between kidneys |
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Profound developmental delay Malformations of the head, face, hands, and feet |
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Acquired |
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Multiple cysts Associated with long-term dialysis, usually after > 10 years High risk of renal cell carcinoma |
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Cysts associated with tumors |
For example, with renal cell carcinoma or nephroblastoma |
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Solitary simple cysts |
Low risk of chronic kidney disease and hypertension Associated with aging |
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* Caused by, eg, sporadic mutations, chromosomal abnormalities, teratogens, or unknown mechanisms. |
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ESRD = end-stage renal disease. |
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