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Cystic kidney disease


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Cystic kidney disease

Clinical feature: 

Definition: This group includes kidney diseases where renal cysts are the cardinal symptom and the predominant cause of progressive renal failure.

Diagnostics: 

Diagnosis: The diagnosis of cystic kidney diseases is made by diagnostic imaging. Because the typical morphological signs become apparent late in the course of the disease, molecular genetic analysis and family screening has gained an important role in early diagnosis and kidney donor selection.

Systematic link table: 

Hereditary kidney diseases
Congenital abnormalities of the kidney and urinary tract
Cystic kidney disease
Autosomal dominant polycystic kidney disease
PKD1
PKD2
Autosomal recessive polycystic kidney and hepatic disease 1
PKHD1
Branchiootorenal dysplasia
Branchiootorenal dysplasia 1
EYA1
Branchiootorenal dysplasia 2
SIX5
MODY5 diabetes
HNF1B
Medullary cystic disease complex
Medullary cystic kidney disease 2
UMOD
Nephronophthisis
Nephronophthisis 1
NPHP1
Nephronophthisis 2
INVS
Nephronophthisis 3
NPHP3
Nephronophthisis 4
NPHP4
Nephronophthisis 6
CEP290
Renal cysts and diabetes (RCAD)
HNF1B
Disorders of tubular solute transport
Hereditary glomerular disease
Hereditary renal tumors
Interstitial kidney disease
Kidney disease appearing as endocrinological disorders
Thrombotic microangiopathies
Urolithiasis

Literature: 

Alexander F et al. (1970) Familial uremic medullary cystic disease.
Bergmann C et al. (2006) Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease.
Hildebrandt F et al. (2005) Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?
Bichet DG et al. (2004) The quest for the gene responsible for medullary cystic kidney disease type 1.
Bleyer AJ et al. (2004) Medullary cystic kidney disease type 2.
Cowley BD et al. (2004) Recent advances in understanding the pathogenesis of polycystic kidney disease: therapeutic implications.