Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease (PKD4)

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OMIM 57 263200 Disease Ontology 12 DOID:0110861 ICD10 33 Q61.1 ICD9CM 35 753.14 MeSH 44 D017044 D016767 NCIt 50 C84579 SNOMED-CT 68 28770003

Orphanet 59 ORPHA731 MESH via Orphanet 45 D017044 UMLS via Orphanet 74 C0085548 ICD10 via Orphanet 34 Q61.1 MedGen 42 C0085548 C0009714 SNOMED-CT via HPO 69 258211005 236423003 42399005 300444006 82525005 32958008 275480001 69056000 105997008 85057007 34742003 59566000 31258000 16294009 34095006 24814002 28670008 80825009 409623005 80515008 79607001 276506001 253883006 more UMLS 73 C0085548 C3887964

NIH Rare Diseases : ⁵³ Autosomal recessive polycystic kidney disease (ARPKD) is a genetic condition that is characterized by the growth of cysts in the kidneys (which lead to kidney failure) and liver and problems in other organs, such as the blood vessels in the brain and heart. The severity varies from person to person. The signs of ARPKD frequently begin before birth, so it is often called �??infantile PKD�?� but some people do not develop symptoms until later in childhood or even adulthood. Children born with ARPKD often, but not always, develop kidney failure before reaching adulthood; babies with the worst cases die hours or days after birth due to respiratory difficulties or respiratory failure. Liver scarring occurs in all patients. The condition is caused by a mutation in the PKHD1 gene and is inherited in an autosomal recessive manner. Some symptoms of the condition may be controlled by medicines, antibiotics, healthy diet, and growth hormones.

MalaCards based summary : Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease, also known as autosomal recessive polycystic kidney disease, is related to polycystic kidney disease 3 with or without polycystic liver disease and caroli disease. An important gene associated with Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease is PKHD1 (PKHD1, Fibrocystin/Polyductin), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Tolvaptan and Vasopressins have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and brain, and related phenotypes are respiratory insufficiency and macrotia

Disease Ontology : ¹² A polycystic kidney disease characterized by the presence of multiple cysts located in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.

OMIM : ⁵⁷ PKD4 is an autosomal recessive polycystic kidney disease (ARPKD) characterized by enlarged, echogenic kidneys with fusiform dilatation of the collecting ducts. Most patients progress to end-stage renal disease (ESRD), but at varying ages. Patients also have liver disease consisting of dilated biliary ducts, congenital hepatic fibrosis (CHF), and portal hypertension (Caroli disease). The most typical disease expression occurs in neonates and includes a history of oligohydramnios, massively enlarged kidneys, and the 'Potter' sequence with pulmonary hypoplasia that leads to respiratory insufficiency and perinatal death in approximately 30% of affected newborns (summary by Hartung and Guay-Woodford, 2014). For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (173900). (263200)

UniProtKB/Swiss-Prot : ⁷⁵ Polycystic kidney disease 4, with or without polycystic liver disease: A severe form of polycystic kidney disease affecting the kidneys and, in some cases, the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis. PKD4 inheritance is autosomal recessive.

GeneReviews: NBK1326

Clinical features from OMIM:

263200

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