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Overview of Cystic Kidney Disease

By Navin Jaipaul, MD, MHS, Associate Professor of Medicine;Chief, Nephrology, Loma Linda University School of Medicine;VA Loma Linda Healthcare System

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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


Clinical Features

Autosomal dominant

Flank and abdominal pain



Large kidneys with multiple bilateral cysts

Extrarenal cysts (liver, pancreas, intestine)

Cerebral aneurysms


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

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

Oral-facial-digital syndrome

Partial clefts in lip, tongue, and alveolar ridges

Hypoplasia of nasal cartilage

Microcysts in kidneys

Benign tumors of the brain, kidneys, and skin

Angiomyolipomas of the kidneys

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

Renal cell carcinoma


Autosomal recessive

Alström syndrome


Type 2 diabetes mellitus

Retinitis pigmentosa

Autosomal recessive polycystic kidney disease

Large kidneys with multiple bilateral cysts

Hepatic fibrosis


ESRD during childhood

Bardet-Biedl syndrome

Male hypogonadism

Intellectual disability




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


Irregular breathing

Eye movement abnormalities

Meckel-Gruber syndrome

Occipital encephalocele


Craniofacial dysplasia

Small to normal-sized kidneys

Polydipsia and polyuria

Mild proteinuria with benign urinary sediment

ESRD possibly during childhood

Zellweger syndrome (cerebrohepatorenal syndrome)

Brain and liver defects

Developmental delay

High serum iron and copper levels


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 ESRD

Multicystic dysplastic kidney

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

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


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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