Sex/origin GW/BW g (DS) | Liver involvement | Liver biopsy | Renal function and ultrasound | Pancreatic involvement | Growth | Urogenital malformations/cognitive impairement | HNF1β mutation | Follow-up duration | Reference |
---|---|---|---|---|---|---|---|---|---|
♂/Japan 39/2390 (−2.26) | - neonatal cholestasis, acholic stools - no abnormality of extrahepatic bile ducts at explorative surgery - cholestasis resolution at 9-month follow-up with a persistent mild transaminases alteration - transient hypercholesterolemia | PILBD, marked cholestasis | - multiple bilateral cysts (right, four 1–2 cm diameter cysts, left, one 1 cm diameter cyst) - mild chronic renal insufficiency | diabetes requiring insulin therapy at 13 years of age (polyuria and polydipsia, mild metabolic acidosis) | NA | absent/ mild | c.457C > A, p.H135N (missense mutation in exon 2, de novo or paternal: history of liver dysfunction and renal insufficiency in his paternal family) | 13 years | Kitanaka S 2004 [9] |
♂/Belgium (Sardinian origin) 37/1520 (−3.46) | - neonatal cholestasis, slightly enlarged liver - cholestasis resolution at 1- year follow-up with a persistent mild transaminases alteration - 3 episodes of cholangitis - high triglyceridemia (300 mg/dL) | PILBD, severe biliary stasis, slight periportal fibrosis | - left kidney agenesis, enlarged and hyperechogenic right kidney, multiple cortical cysts - progressive chronic renal insufficiency from 19 months | - diabetes requiring insulin therapy at 5 years of age without ketoacidosis - pancreatic atrophy with progressive exocrine pancreatic deficiency requiring enzyme substitution from the age of 16 years | final height of 162.1 cm (− 1.86 SD), BMI 19.0 Kg/m2 (− 0.62 SD) | absent/NA | 499_504 delGCTCTG insCCCCT, A167FS (combination of a deletion and insertion in exon 2, de novo) | 18 years | Beckers D 2007 [8] |
♂/Germany 35/1780 (− 1.69) | - neonatal cholestasis, acholic stools - cholestasis resolution at 1 year follow-up with a persistent mild transaminases alteration - hypercholesterolemia (292 mg/dL) and hypertriglyceridemia (307 mg/dL) | PILBD | - severe malformations of both kidneys (cystic kidney dysplasia and hydronephrosis due to urethral stenosis) - chronic renal insufficiency | - diabetes requiring insulin therapy at 13 years of age - pancreatic hypoplasia with progressive exocrine pancreatic deficiency | final height of 133.9 cm (− 6.7 SD), BMI 17.3 Kg/m2 (− 2.1 SD) | inguinal hernia, abdominal testis/delayed psychomotor development | HNF1β deletion exons 1–9, de novo | 18 years | Raile K 2009 [6] |
♀/Czech Republic 38/2360 (− 1.60) | - neonatal cholestasis, acholic stools - Kasai portoenterostomy at 32 days of age as extrahepatic bile ducts were not visualized at explorative surgery - progressive increase in liver function tests, mainly cholestatic - multiple cysts in the left hepatic lobe (diameter from 2 to 7 mm) | PILBD, cholestasis without signs of bile duct proliferation | - multiple bilateral cortical cysts (maximal diameter 5 mm), prenatally hyperechogenic kidneys - normal renal function by 2-year follow-up - mild hypomagnesemia | - pancreatic hypoplasia (absent body and tail) without exocrine pancreatic deficiency - normoglycaemia by 2-year follow-up | growth along the 3rd centile | absent/absent | 1698 kb deletion including HNF1β, de novo | 2 years | Kotalova R 2015 [7] |
♂/France 35/NA | - neonatal cholestasis without acholic stools - hepatocellular carcinoma with elevated alpha-fetoprotein levels at 16 months of age requiring liver transplant - no relapse at 1-year follow-up | - multinodular hepatic tumor and micronodular cirrhosis at the explant - no information available on PILBD | - renal hyperechogenicity - transient renal failure | NA | NA | NA/NA | 1.5 Mb deletion including HNF1β | 2 years | de Leusse C [10] |
♂/Italy 38/2600 (− 1.27) | - neonatal cholestasis, hypocholic stools - persistent cholestasis and pruritus at 18-month follow-up - hypercholesterolemia (256 mg/dL) and hypertriglyceridemia (120 mg/dL) | PILBD, biliary stasis | - hyperechogenic kidneys, with multiple bilateral cortical cysts (maximum size 2 mm) - chronic renal insufficiency | initial pancreatic exocrine dysfunction without pancreatic hypoplasia at US | growth along the 10th centile | absent/absent | c.827G > A, p.R276Q (missense mutation in exon 4, de novo) | 18 months | Present report |