{"orpha":731,"name":"Autosomal recessive polycystic kidney disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AR-PKD"],"definition":"A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. Clinical presentation, whilst typically in utero or at birth, is variable and in the most severe cases includes Potter-sequence, oligohydramnios, pulmonary hypoplasia, and massively enlarged echogenic kidneys.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-731/","orphanet_url":"https://www.orpha.net/en/disease/detail/731","names":{"fr":{"name":"Polykystose rénale autosomique récessive","synonyms":["AR-PKD"],"definition":"Maladie kystique génétique rare touchant les reins et le foie. Elle est caractérisée par une dilatation kystique et une ectasie des tubes collecteurs des reins, et une malformation de la plaque ductale hépatique aboutissant à une fibrose hépatique congénitale (FHC). La présentation clinique, tant in utero qu'à la naissance, est variable. Dans les cas les plus sévères, il existe un syndrome de Potter, un oligoamnios, une hypoplasie pulmonaire et de très gros reins hyperéchogènes."},"de":{"name":"Nierenkrankheit, polyzystische, autosomal-rezessive","synonyms":["ARPKD","Nierenkrankheit, polyzystische, infantile Form","Nierenkrankheit, polyzystische, rezessive"],"definition":"Es handelt sich um eine seltene hepatorenale fibrozystische Erkrankung genetischen Ursprungs, die durch eine zystische Dilatation und Ektasie der Nierensammeltubuli gekennzeichnet ist, die mit einer Fehlbildung der Duktusplatte der Leber einhergeht und zu einer kongenitalen Leberfibrose führt. Die klinische Präsentation, die sich typischerweise in utero oder bei der Geburt manifestiert, ist variabel und umfasst in den schwersten Fällen Potter-Sequenz, Oligohydramnion, pulmonale Hypoplasie und massiv vergrößerte echogene Nieren."},"es":{"name":"Enfermedad renal poliquística autosómica recesiva","synonyms":["AR-PKD"],"definition":"Es un síndrome hepatorrenal fibroquístico de origen genético y poco frecuente caracterizado por una dilatación quística y ectasia de los túbulos colectores renales, y una malformación de la placa ductal hepática que resulta en fibrosis hepática congénita. Aunque se manifiesta típicamente en el útero o al nacimiento, la presentación clínica es variable y en los casos más graves incluye la secuencia de Potter, oligohidramnios, hipoplasia pulmonar y riñones ecogénicos masivamente aumentados de tamaño."},"it":{"name":"Rene policistico autosomico recessivo","definition":"È una malattia fibrocistica epatorenale rara, di origine genetica caratterizzata dalla dilatazione cistica e dall'ectasia dei tubuli collettori dei reni, associate ad una malformazione del piatto duttale del fegato che esita nella fibrosi epatica congenita. Il quadro clinico, che di solito esordisce in utero o alla nascita, è variabile e, nei casi più gravi, comprende la sequenza di Potter, l'oligoidramnios, l'ipoplasia del polmone e reni iperecogeni notevolmente ingrossati."},"nl":{"name":"Autosomaal recessieve polycystische nierziekte","synonyms":["AR-PKD"],"definition":"Een zeldzaam, genetisch, hepatorenaal fibrocystisch syndroom gekarakteriseerd door cystische dilatatie en ectasie van verzamelbuisjes van de nier, en een malformatie van ductale platen van de lever die leidt tot congenitale leverfibrose. Het klinisch beeld manifesteert zich doorgaans in utero of bij de geboorte, is variabel en omvat in de meest ernstige gevallen Potter sequentie, oligohydramnion, pulmonale hypoplasie, en massaal uitgezette echogene nieren."},"pt":{"name":"Doença renal poliquística autossómica recessiva"},"pl":{"name":"Autosomalna recesywna wielotorbielowatość nerek","synonyms":["AR-PKD"],"definition":"Rzadki, genetycznie uwarunkowany zespół zwyrodnienia włóknisto-torbielowatego wątroby i nerek, charakteryzujący się torbielowatym poszerzeniem i ektazją kanalików zbiorczych nerek oraz malformacją cylindrycznej warstwy komórek otaczającej drobne odgałęzienia żyły wrotnej (tzw. ductal plate), co prowadzi do wrodzonego zwłóknienia wątroby. Objawy kliniczne, widoczne już w okresie życia płodowego lub po urodzeniu, zazwyczaj są zmienne i w najcięższych przypadkach obejmują sekwencję Pottera, małowodzie, hipoplazję płuc i znacznie powiększone echogeniczne nerki."},"cs":{"name":"Autozomálně recesivní polycystická nemoc ledvin","synonyms":["Autozomálně recesivní polycystóza ledvin"]},"uk":{"name":"Аутосомно-рецесивна полікістозна хвороба нирок","synonyms":["AR-PKD"],"definition":"A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. Clinical presentation, whilst typically in utero or at birth, is variable and in the most severe cases includes Potter-sequence, oligohydramnios, pulmonary hypoplasia, and massively enlarged echogenic kidneys."},"zh":{"name":"常染色体隐性遗传多囊肾","synonyms":["AR-PKD"]},"tr":{"name":"Otozomal resesif polikistik böbrek hastalığı","synonyms":["AR-PKD"]}},"xrefs":[{"source":"OMIM","code":"263200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617610","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q61.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"GB8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1424110943"},{"source":"MONDO","code":"0009889","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017044","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085548","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8378","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036047","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":93587,"name":"Genetic cystic renal disease","classifications":[156,188]},{"orpha":156604,"name":"Genetic parenchymatous liver disease","classifications":[156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":399824,"name":"Rare disorder with obstructive azoospermia","classifications":[201]},{"orpha":400003,"name":"Rare genetic disorder with obstructive azoospermia","classifications":[156]},{"orpha":101939,"name":"Rare parenchymal liver disease","classifications":[183]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]}],"children":[],"genes":[{"symbol":"DZIP1L","name":"DAZ interacting zinc finger protein 1 like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28530676[PMID]","hgnc":"26551","ensembl":"ENSG00000158163","omim":"617570","loci":["3q22.3"]},{"symbol":"PKHD1","name":"PKHD1 ciliary IPT domain containing fibrocystin/polyductin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301501[PMID]","hgnc":"9016","ensembl":"ENSG00000170927","omim":"606702","loci":["6p12.3-p12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Germany","status":"Validated","source":"[EXPERT]_9511976[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-06","source":"20301501[PMID]_25689455[PMID]_28530676[PMID]","terms":[{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001405","label":"Periportal fibrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000113","label":"Polycystic kidney dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011040","label":"Abnormality of the intrahepatic bile duct","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006560","label":"Biliary hyperplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002612","label":"Congenital hepatic fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030948","label":"Elevated gamma-glutamyltransferase level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002040","label":"Esophageal varix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002630","label":"Fat malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001971","label":"Hypersplenism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012202","label":"Increased serum bile acid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004905","label":"Low levels of vitamin A","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100513","label":"Low levels of vitamin E","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011892","label":"Low levels of vitamin K","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005565","label":"Reduced renal corticomedullary differentiation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030151","label":"Cholangitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002884","label":"Hepatoblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002791","label":"Hypoventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100520","label":"Oliguria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002243","label":"Protein-losing enteropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040064","label":"Abnormality of limbs","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030153","label":"Cholangiocarcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001737","label":"Pancreatic cysts","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002108","label":"Spontaneous pneumothorax","frequency":"Very rare (<4-1%)","criteria":null}]}}