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Autosomal Recessive Polycystic Kidney Disease

DA: 559

Developmental anomaly information

Definition: Autosomal recessive polycystic kidney disease (ARPKD) is the most common heritable cystic renal disease occurring in infancy and childhood ( type 1 Potter classification). It is distinct from autosomal dominant polycystic kidney disease (ADPKD), which tends to occur in an older population. The clinical spectrum shows a wide variability, ranging from perinatal death to a milder progressive form, which may not be diagnosed until adolescence. Despite the clinical variability of ARPKD, it appears that a single unidentified gene is responsible for all forms of the disease. Linkage studies have localized an area on chromosome 6 (PKHD1) as the genetic locus. The frequency of the heterozygous state is estimated to be one in 70. The PKHD1 gene is expressed at high levels in the fetal and adult kidney and at lower levels in the liver, which corresponds to the principle sites of disease. Liver disease is present in every patient with ARPKD, with the manifestations varying according to the patient's age at presentation. The chief pathologic hallmarks of liver disease are periportal fibrosis and biliary duct ectasia. Significant liver involvement is referred to as congenital hepatic fibrosis.


  • PDK
  • infantile polycystic kidney disease
  • polycystic disease of the newborn

Developmental anomaly parent: Renal cystic disease

Topology: Human body > Abdomen > Retroperitoneum > Kidneys

System: Human body > Urinary system > Kidneys

Developmental anomaly category: Malformation

Case records MDB146, MDB104, MDB231, MDB213

OMIM: 263200

Observed in MDB cases
Observed in combinaisons (MDB)
Observed in malformative diseases (MDB)
Associated genes in profile
Associated genes in malformative diseases
Associated chromosomal diseases
Associated signaling pathways
Associated developmental anomalies

Here is the list of developmental anomalies associated with this developmental anomaly, based on the cases' information :

Last modified: 2009-01-07 20:23:25 by farideh

Created: 2008-08-15 17:18:28 by farideh

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