Overview of Cystic Kidney Disease: Cystic Kidney Disease: Merck Manual Professional

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Cystic Kidney Disease

Overview of Cystic Kidney Disease

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Overview of Cystic Kidney Disease

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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 1: Cystic Kidney Disease: Major Groups of Cystic Nephropathies).

Table 1

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Major Groups of Cystic Nephropathies
Disorder	Clinical Features
Autosomal dominant
Autosomal dominant polycystic kidney disease	Flank and abdominal pain Hematuria Hypertension Large kidneys Extrarenal cysts (liver, pancreas, intestine) 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
Von Hippel–Lindau disease	Angioma proliferation in the retina, brain, spinal cord, and adrenal glands
Autosomal recessive
Alström syndrome	Obesity Type 2 diabetes mellitus Retinitis pigmentosa
Autosomal recessive polycystic kidney disease	Large kidneys 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's syndrome	Spleen agenesis Cyanotic heart disease Gut malrotation
Jeune's syndrome (asphyxiating thoracic dystrophy)	Dwarfism involving the chest, arms, and legs
Joubert's syndrome	Intellectual disability Hypotonia Irregular breathing Eye movement abnormalities
Meckel-Gruber syndrome	Occipital encephalocele Polydactyly Craniofacial dysplasia
Nephronophthisis	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 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
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 High risk of renal cell carcinoma
Cysts associated with tumors	For example, with renal cell carcinoma or nephroblastoma
Solitary cysts	Low risk of renal disease and hypertension
*Caused by, eg, sporadic mutations, chromosomal abnormalities, teratogens, or unknown mechanisms. ESRD = end-stage renal disease.

Major Groups of Cystic Nephropathies

Disorder

Clinical Features

Autosomal dominant
Autosomal dominant polycystic kidney disease	Flank and abdominal pain Hematuria Hypertension Large kidneys Extrarenal cysts (liver, pancreas, intestine) 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
Von Hippel–Lindau disease	Angioma proliferation in the retina, brain, spinal cord, and adrenal glands
Autosomal recessive
Alström syndrome	Obesity Type 2 diabetes mellitus Retinitis pigmentosa
Autosomal recessive polycystic kidney disease	Large kidneys 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's syndrome	Spleen agenesis Cyanotic heart disease Gut malrotation
Jeune's syndrome (asphyxiating thoracic dystrophy)	Dwarfism involving the chest, arms, and legs
Joubert's syndrome	Intellectual disability Hypotonia Irregular breathing Eye movement abnormalities
Meckel-Gruber syndrome	Occipital encephalocele Polydactyly Craniofacial dysplasia
Nephronophthisis	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 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
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 High risk of renal cell carcinoma
Cysts associated with tumors	For example, with renal cell carcinoma or nephroblastoma
Solitary cysts	Low risk of renal disease and hypertension
*Caused by, eg, sporadic mutations, chromosomal abnormalities, teratogens, or unknown mechanisms. ESRD = end-stage renal disease.

Last full review/revision July 2009 by Drew C. Cutler, MD

Content last modified February 2012

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