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Autosomal recessive polycystic kidney disease
ORPHA:731 · Disease · Disorder
HPO 表現型（共 51 項）
Very frequent (99-80%)(5)
- Enlarged kidneyHP:0000105
- Hepatic fibrosisHP:0001395
- HypertensionHP:0000822
- Periportal fibrosisHP:0001405
- Polycystic kidney dysplasiaHP:0000113
Frequent (79-30%)(24)
- Abnormal intrahepatic bile duct morphologyHP:0011040
- Biliary hyperplasiaHP:0006560
- CholestasisHP:0001396
- Congenital hepatic fibrosisHP:0002612
- Decreased circulating vitamin D concentrationHP:0100512
- Decreased circulating vitamin E concentrationHP:0100513
- Decreased circulating vitamin K concentrationHP:0011892
- Elevated gamma-glutamyltransferase levelHP:0030948
- Esophageal varixHP:0002040
- Fat malabsorptionHP:0002630
- Feeding difficultiesHP:0011968
- Growth delayHP:0001510
- HypersplenismHP:0001971
- HyponatremiaHP:0002902
- Increased serum bile acid concentrationHP:0012202
- OligohydramniosHP:0001562
- Portal hypertensionHP:0001409
- Pulmonary hypoplasiaHP:0002089
- Reduced circulating vitamin A concentrationHP:0004905
- Reduced renal corticomedullary differentiationHP:0005565
- Renal insufficiencyHP:0000083
- Respiratory failureHP:0002878
- SplenomegalyHP:0001744
- Stage 5 chronic kidney diseaseHP:0003774
Occasional (29-5%)(14)
- Acute kidney injuryHP:0001919
- AscitesHP:0001541
- CholangitisHP:0030151
- Gastrointestinal hemorrhageHP:0002239
- HepatoblastomaHP:0002884
- HepatosplenomegalyHP:0001433
- HypoventilationHP:0002791
- JaundiceHP:0000952
- OliguriaHP:0100520
- PolydipsiaHP:0001959
- Protein-losing enteropathyHP:0002243
- Recurrent pneumoniaHP:0006532
- Recurrent urinary tract infectionsHP:0000010
- ThrombocytopeniaHP:0001873
Very rare (<4-1%)(8)
- Abnormality of limbsHP:0040064
- CholangiocarcinomaHP:0030153
- Cognitive impairmentHP:0100543
- Depressed nasal ridgeHP:0000457
- Low-set earsHP:0000369
- MicrognathiaHP:0000347
- Pancreatic cystsHP:0001737
- Spontaneous pneumothoraxHP:0002108