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Overview of Cystic Kidney Disease

by Navin Jaipaul, MD, MHS

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— Major Groups of Cystic Nephropathies).

Major Groups of Cystic Nephropathies

Disorder

Clinical Features

Autosomal dominant

Autosomal dominant polycystic kidney disease

Flank and abdominal pain

Hematuria

Hypertension

Large kidneys with multiple bilateral cysts

Extrarenal cysts (liver, pancreas, intestine)

Cerebral aneurysms

Diverticulosis

Abdominal wall hernias

ESRD during adulthood if at all

Branchio-oto-renal syndrome (Melnick-Fraser syndrome)

Branchial fistulas and cysts

Preauricular pits or tags

Hearing loss

Familial renal hamartomas

Primary hyperparathyroidism

Ossifying fibromas of the jaw

Medullary cystic disease

Small to normal-sized kidneys

Polydipsia and polyuria

Mild proteinuria with benign urinary sediment

ESRD during adulthood

Sometimes gout

Oral-facial-digital syndrome

Partial clefts in lip, tongue, and alveolar ridges

Hypoplasia of nasal cartilage

Microcysts in kidneys

Tuberous sclerosis

Benign tumors of the brain, kidneys, and skin

Angiomyolipomas of the kidneys

Von Hippel–Lindau disease

Hemangioblastoma proliferation in the retina, brain, spinal cord, and adrenal glands

Renal cell carcinoma

Pheochromocytoma

Autosomal recessive

Alström syndrome

Obesity

Type 2 diabetes mellitus

Retinitis pigmentosa

Autosomal recessive polycystic kidney disease

Large kidneys with multiple bilateral cysts

Hepatic fibrosis

Hypertension

ESRD during childhood

Bardet-Biedl syndrome

Male hypogonadism

Intellectual disability

Retinopathy

Obesity

Polydactyly

Ellis–van Creveld syndrome

Short-limb dwarfism

Polydactyly

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

Nephronophthisis and medullary cystic kidney disease

Small to normal-sized kidneys

Polydipsia and polyuria

Mild proteinuria with benign urinary sediment

ESRD possibly during childhood (in nephronophthisis) or adulthood (in medullary cystic kidney disease)

Zellweger syndrome (cerebrohepatorenal syndrome)

Brain and liver defects

Developmental delay

High serum iron and copper levels

Hypotonia

Other congenital*

Cysts of nontubular origin (includes glomerular, subcapsular, and pyelocalyceal cysts)

Various clinical characteristics

Hepatocyte nuclear factor-1β mutations

Associated with type 2 diabetes mellitus that begins during young adulthood, multicystic renal dysplasia, oligomeganephronia, and renal agenesis

Malformation syndromes

Various clinical characteristics

Medullary sponge kidney

Tubular dilatations and cysts of collecting ducts

Associated renal tubular acidosis type 1 and renal calculi

Does not progress to ESRD

Multicystic dysplastic kidney

Unilateral nonreniform mass of cysts and connective tissue, with typically absent functioning renal tissue

Renal cystic dysplasia

Associated with urinary structural obstruction or metanephric malformation

Degree of dysplasia asymmetric between kidneys

Trisomy 18

Profound developmental delay

Malformations of the head, face, hands, and feet

Acquired

Acquired cystic disease

Multiple cysts

Associated with long-term dialysis, usually after > 10 yr

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.

ESRD = end-stage renal disease.

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