Autosomal recessive polycystic kidney disease

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.



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Narrow down the case reports



Total: 85 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.0%)		 31218169
 Goldston syndrome with congenital hepatic fibrosis: A rare cause of neonatal cholestasis.
Agrwal S, Dabas A, Pal T, Jhamb U.
Intractable Rare Dis Res. 2019;8(2):154-157.
Dandy-Walker malformation
2
(38.6%)		 10607948
 Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.
Hallermann C, Mucher G, Kohlschmidt N, Wellek B, Schumacher R, Bahlmann F, Shahidi-Asl P, Theile U, Rudnik-Schoneborn S, Muntefering H, Zerres K.
Am J Med Genet. 2000;90(2):115-9.
Anteverted nares Short neck
PKHD1
Autosomal Recessive Polycystic Kidney Disease Chromosomes, Human, Pair 6 Fatal Outcome Homo sapiens Infant, Newborn Liver Cirrhosis Male Syndrome
3
(31.0%)		 27073431
(4812390)
 Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report.
Lin FJ, Lu W, Gale D, Yao Y, Zou R, Bian F, Jiang GR.
Exp Ther Med. 2016;11(4):1249-1252.
External ear malformation Preaxial polydactyly
SALL1
c|SUB|C|874|T p|SUB|Q|292|X
4
(17.5%)		 22882926
 Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease.
Zhang D, Lu L, Yang HB, Li M, Sun H, Zeng ZP, Li XP, Xia WB, Xing XP.
Chin Med J (Engl). 2012;125(14):2482-6.
Calcinosis
PKHD1
c|SUB|A|979|G g|SUB|G|5935|A p|SUB|D|327|N p|SUB|G|1979|R p|SUB|N|327|D p|SUB|R|1979|G
Autosomal Recessive Polycystic Kidney Disease Exome Genetic Predisposition to Disease Homo sapiens Male Mutation Receptors, Cell Surface
5
(4.0%)		 31123615
 Diagnostic of Early Onset Polycystic Kidney Disease in Neonates.
Mateescu D, Gheonea M, Bala S, Rosu GC, Pirici D, Rogoveanu I.
Curr Health Sci J. 2018;44(4):374-380.
Abdominal distention
5
(4.0%)		 30497224
 Ruptured intracranial aneurysm in a patient with autosomal recessive polycystic kidney disease.
Perez JL, McDowell MM, Zussman B, Jadhav AP, Miyashita Y, McKiernan P, Greene S.
J Neurosurg Pediatr. 2018;23(1):75-79.
Hepatic failure
PKHD1
Aneurysm, Ruptured Angiography, Digital Subtraction Autosomal Recessive Polycystic Kidney Disease Child Decompressive Craniectomy Embolization, Therapeutic Fatal Outcome Homo sapiens Intracranial Aneurysm Liver Failure Male Subarachnoid Hemorrhage Ventriculostomy
5
(4.0%)		 30455801
(6235478)
 Autosomal recessive polycystic kidney disease (ARPKD) in a Nigerian newborn: a case report.
Bolaji O, Erinomo O, Adebara O, Okolugbo J, Onumajuru B, Akanni T, Adebami O.
Pan Afr Med J. 2018;30:172.
Nephropathy
PKHD1 PRKD1
Asphyxia Neonatorum Autopsy Autosomal Recessive Polycystic Kidney Disease Fatal Outcome Females Homo sapiens Infant, Newborn Male Nigeria Pregnancy Respiratory Distress Syndrome, Newborn Ultrasonography, Prenatal
5
(4.0%)		 30199558
 A teenage patient with autosomal recessive polycystic kidney disease, a splenorenal shunt, and congenital hepatic fibrosis: a case report.
Scarioti VD, Oliveira LT, Mattiello AC, Gomes NDS.
J Bras Nefrol. 2018;:.
Edema
PKHD1
Adrenergic beta-Antagonists Angiotensin-Converting Enzyme Inhibitors Autosomal Recessive Polycystic Kidney Disease Biopsy Brazil Caroli Disease Females Homo sapiens Liver Cirrhosis Magnetic Resonance Angiography Potassium Sparing Diuretics Referral and Consultation
5
(4.0%)		 29643536
 [Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review].
Yang XY, Zhu LP, Liu XQ, Zhang CY, Yao Y, Wu Y.
Beijing Da Xue Xue Bao Yi Xue Ban. 2018;50(2):335-339.
Hepatic fibrosis
PKHD1
c|SUB|G|9292|A c|SUB|T|2507|C;RS#:199568593
Asians Autosomal Recessive Polycystic Kidney Disease Caroli Disease China Heterozygote Homo sapiens Infant Kidney Liver Cirrhosis Male Missense Mutation Phenotype Receptors, Cell Surface Retrospective Studies
5
(4.0%)		 28933340
 Renal histology and MRI findings in a 37-year-old Japanese patient with autosomal recessive polycystic kidney disease
.
Ito Y, Sekine A, Takada D, Yabuuchi J, Kogure Y, Ueno T, Sumida K, Yamanouchi M, Hayami N, Suwabe T, Hoshino J, Sawa N, Takaichi K, Kinowaki K, Fujii T, Ohashi K, Kikuchi H, Mandai S, Chiga M, Mori T, Sohara E, Uchida S, Ubara Y.
Clin Nephrol. 2017;88(11):292-297.
Renal tubular atrophy
Adult Autosomal Recessive Polycystic Kidney Disease Homo sapiens Kidney Magnetic Resonance Imaging Male Mutation Receptors, Cell Surface
        

Phenotype(s) retrieved from Orphanet

    Total: 13

HPO ID Term Frequency
HP:0000083 Renal insufficiency Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000400 Macrotia Very frequent (99-80%)
HP:0000457 Depressed nasal ridge Very frequent (99-80%)
HP:0002093 Respiratory insufficiency Very frequent (99-80%)
HP:0002612 Congenital hepatic fibrosis Very frequent (99-80%)
HP:0005562 Multiple renal cysts Very frequent (99-80%)
HP:0100720 Hypoplasia of the ear cartilage Very frequent (99-80%)
HP:0001080 Biliary tract abnormality Frequent (79-30%)
HP:0001407 Hepatic cysts Frequent (79-30%)
HP:0001737 Pancreatic cysts Frequent (79-30%)
HP:0008678 Renal hypoplasia/aplasia Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 31

HPO ID Term # of case reports
HP:0002612 Congenital hepatic fibrosis 12
HP:0000822 Hypertension 4
HP:0000105 Enlarged kidney 3
HP:0001395 Hepatic fibrosis 3
HP:0001409 Portal hypertension 2
HP:0001541 Ascites 2
HP:0000083 Renal insufficiency 1
HP:0000107 Renal cyst 1
HP:0000112 Nephropathy 1
HP:0000846 Adrenal insufficiency 1
HP:0000969 Edema 1
HP:0001289 Confusion 1
HP:0001298 Encephalopathy 1
HP:0001396 Cholestasis 1
HP:0001401 Intrahepatic biliary dysgenesis 1
HP:0001638 Cardiomyopathy 1
HP:0001920 Renal artery stenosis 1
HP:0002040 Esophageal varix 1
HP:0002089 Pulmonary hypoplasia 1
HP:0002090 Pneumonia 1
HP:0002094 Dyspnea 1
HP:0002138 Subarachnoid hemorrhage 1
HP:0002617 Dilatation 1
HP:0005562 Multiple renal cysts 1
HP:0005575 Hemolytic-uremic syndrome 1
HP:0006580 Portal fibrosis 1
HP:0010444 Pulmonary insufficiency 1
HP:0011985 Acholic stools 1
HP:0012408 Medullary nephrocalcinosis 1
HP:0031864 Bacteremia 1
HP:0100749 Chest pain 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
DZIP1L DAZ interacting zinc finger protein 1 like 199221
PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 5314