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Major Groups of Cystic
Nephropathies
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Disorder
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Clinical Features
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Autosomal Dominant
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Autosomal dominant polycystic kidney disease
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Flank and abdominal pain
Hematuria
Hypertension
Large kidneys
Extrarenal cysts (liver, pancreas, intestine)
ESRD during adulthood if at all
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Branchio-oto-renal syndrome (Melnick-Fraser syndrome)
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Branchial fistulas and cysts
Preauricular pits or tags
Hearing loss
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Familial renal hamartomas
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Primary hyperparathyroidism
Ossifying fibromas of the jaw
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Medullary cystic disease
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Small to normal-sized kidneys
Polydipsia and polyuria
Mild proteinuria with benign urinary sediment
ESRD during adulthood
Sometimes gout
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Oral-facial-digital syndrome
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Partial clefts in lip, tongue, and alveolar ridges
Hypoplasia of nasal cartilage
Microcysts in kidneys
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Tuberous sclerosis
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Benign tumors of the brain, kidneys, and skin
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Von Hippel-Lindau disease
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Angioma 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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Obesity
Type 2 diabetes mellitus
Retinitis pigmentosa
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Autosomal recessive polycystic kidney disease
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Large kidneys
Hepatic fibrosis
Hypertension
ESRD during childhood
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Bardet-Biedl syndrome
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Male hypogonadism
Intellectual disability
Retinopathy
Obesity
Polydactyly
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Ellis-van Creveld syndrome
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Short limb dwarfism
Polydactyly
Heart defects frequently
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Ivemark's syndrome
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Spleen agenesis
Cyanotic heart disease
Gut malrotation
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Jeune's syndrome (asphyxiating thoracic dystrophy)
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Dwarfism involving the chest, arms, and legs
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Joubert's syndrome
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Intellectual disability
Hypotonia
Irregular breathing
Eye movement abnormalities
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Meckel-Gruber syndrome
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Occipital encephalocele
Polydactyly
Craniofacial dysplasia
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Nephronophthisis
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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)
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Brain and liver defects
Developmental delay
High serum iron and copper levels
Hypotonia
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Other congenital*
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Cysts of nontubular origin (includes glomerular, subcapsular, and pyelocalyceal cysts)
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Various clinical characteristics
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Hepatocyte nuclear factor-1β mutations
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Associated with type 2 diabetes mellitus that begins during young adulthood, multicystic renal dysplasia, oligomeganephronia, and renal agenesis
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Malformation syndromes
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Various clinical characteristics
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Medullary sponge kidney
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Tubular dilatations and cysts of collecting ducts
Associated renal tubular acidosis type 1 and renal calculi
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Multicystic dysplastic kidney
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Unilateral nonreniform mass of cysts and connective tissue, with typically absent functioning renal tissue
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Renal cystic dysplasia
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Associated with urinary structural obstruction or metanephric malformation
Degree of dysplasia asymmetric between kidneys
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Trisomy 18
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Profound developmental delay
Malformations of the head, face, hands, and feet
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Acquired
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Acquired cystic disease
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Multiple cysts
Associated with long-term dialysis
High risk of renal cell carcinoma
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Cysts associated with tumors
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For example, with renal cell carcinoma or nephroblastoma
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Solitary cysts
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Low risk of renal disease and hypertension
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*Caused by, eg, sporadic mutations, chromosomal abnormalities, teratogens, or unknown mechanisms.
ESRD = end-stage renal disease.
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