Case Report
Copyright ©The Author(s) 2015.
World J Gastroenterol. Feb 28, 2015; 21(8): 2550-2557
Published online Feb 28, 2015. doi: 10.3748/wjg.v21.i8.2550
Table 1 Laboratory data before and after portoenterostomy sec. Kasai that was performed at age 32 d
AgeTotal bilirubin,μmol/LConjugated bilirubin,μmol/LAST,μkat/LALT,μkat/LGGT,μkat/LALP,μkat/LUrea, mmol/LCreatinine,μmol/LCholesterol, mmol/LAlbumin, g/LINRMg, mmol/L
4 d104321.270.4223.32.34.7812.736.00.91NA
27 d1451001.570.9210.27.22.2293.736.81.05NA
5 mo1351102.592.246.88.15.2229.542.00.84NA
19 mo30253.153.097.511.45.3186.742.70.950.90
2 yr33283.103.136.410.75.5216.743.90.920.66
Table 2 Phenotypic outline in twelve patients with hepatic involvement due to HNF1B mutation or whole gene deletion
Ref.Sex/OriginGW/BW g (BW SDS) (Lawrence 1989)First clinical symptoms (age)Laboratory resultsKidney ultrasoundKidney functionLiver biopsyPancreas morphologyPancreatic exocrine functionOnset of clinical diabetes (age)Diabetes treatmentIntellectual developmentGenotype (inherited from)
Severe neonatal cholestatic icterus
Present reportF/Czech38/2360 (-2.02)Neonatal cholestasis (first week of life)Anemia; progressively increasing, mainly cholestatic, liver testsMultiple bilateral cortical cysts (maximal diameter 5 mm), prenatally hyperechogenic kidneysNormal by 2 yrPaucity of intrahepatic bile ducts, severe biliary stasis, marked periportal fibrosisAbsent body and tailNormal fecal elastase by age 19 moNormoglycaemia by 2 yrNot applicableNormal1698 kb deletion including HNF1B (de novo)
[17]M/Sardinian37/1520 (-3.70)Neonatal cholestasis (first weeks of life)High but resolving hyperbilirubinemia; fluctuating liver enzymes; high triglyceridemiaLeft kidney agenesis; enlarged and hyperechogenic right kidney; multiple cortical cystsProgressive chronic renal insufficiency by 18 yrPaucity of intrahepatic bile ducts, severe biliary stasis, slight periportal fibrosisProgressive atrophy from birth up to 16 yrProgressive decline; need for enzyme replacement by 16 yrTransient neonatal hyperglycemia; permanent diabetes since 5 yrInsulin 1.26 U/kg per day by 18 yrNAc. 499_504delGCTC TGinsCCCCT (de novo)
[16]M/Japanese39/2390 (-2.54)Neonatal respiratory distress; neonatal cholestasis (first weeks of life)Hyperbilirubinemia (resolving by 9 mo); transiently high cholesterol; constantly high AST, ALTMultiple bilateral cysts (right, four cysts of 10-20 mm diameter; left, one cyst of 10 mm diameter)Mild chronic renal insufficiency by 13 yrMarked cholestasis; reduced number of intrahepatic bile ducts; no signs of infiltrationNANA13 yrInsulin 0.4 U/kg per day after therapy onsetSlightly delayedc. 457C>A (de novo or paternal)
Late-onset cholestasis
[18] case No. 1M/German35/1780 (-2.08)Neonatal cholestasis (first weeks of life)Elevated AST/ALT/GGTCystic dysplasia; hydronephrosis due to urethral stenosisChronic renal insufficiency by 18 yrIntrahepatic cholestasis due to paucity of bile ductsHypoplasticFecal elastase deficiency13 yrInsulin 1.34 U/kg per day by 18 yrRetarded1590 kb deletion including HNF1B (de novo or paternal)
[20] case No. 1F/?NAJaundice (29 yr)Progressively increasing, mainly cholestatic, liver tests; hypomagnesaemiaRenal cystsMild chronic renal insufficiency by 33 yrNon-specific changes; slight steatosisAtrophicNA14 yrNANormal1423 kb deletion including HNF1B (NA)
[20] case No. 2M/?NA"Chronic pancreatitis" (44 yr)Progressively increasing, mainly cholestatic, liver tests; hypomagnesaemiaRenal cystsMild chronic renal insufficiency by 53 yrMinor sinusoidal dilatationAtrophicNA51 yrNARetarded1427 kb deletion including HNF1B (NA)
Non-cholestatic liver impairment
[20] case No. 3F/?NAJaundice (30 yr)Progressively increasing cholestatic liver tests; hypomagnesaemiaRenal cystsChronc renal insufficiency by 30 yrThickened basal membranes around the bile ducts; minor sinusoidal dilatationAtrophicNABefore 30 yrNANormalc. 544C>T (NA)
[18] case No. 2F/Turkish40/2630 (-2.13)Unilateral cystic kidney dysplasia; diabetes (13 yr)Elevated AST/ALTUnilateral cystic dysplasiaNormal by 15 yrNo cholestasisNormalNormal13 yrInsulin 0.24 U/kg per day by 15 yrNormal1700 kb deletion including HNF1B (de novo)
[18] case No. 3F/Vietnamese40/2600 (-2.20)Prolonged severe hyperglycemia; bilateral cataracts (16 yr)Elevated AST/ALT/GGTBilateral cortical cystsMild chronic renal insufficiency by 16.5 yrNo cholestasisAbsent body and tailFecal elastase deficiency16 yrInsulin 3.4 U/kg per day by 16.5 yrNormal1310 kb deletion including HNF1B (de novo)
[18] case No. 4 and [28]M/German38/2650 (-1.53)Failure to thrive and renal failure (4 wk)Elevated AST/ALT/GGTHypoplastic hyperechogenic kidneys; cortical cystsEnd-stage renal failure - dialysis since 10 yr, transplantation at 10.5 yrSteatohepatitisNormalNormal15 yrInsulin 0.2 U/kg per day by 15 yrRetarded1550 kb deletion including HNF1B (de novo)
[18] case No. 5F/German40/3340 (-0.40)Unilateral coloboma and loss of vision; diabetes (12 yr)Elevated AST/ALTNo visible renal abnormity; arterial hypertensionNormal by 15.6 yrSteatohepatitisNormalNormal12 yrInsulin 0.4 U/kg per day by 15.6 yrNormal1430 kb deletion including HNF1B (de novo or paternal)
[19]F/Turkish38/1900 (-3.13)Fever; diarrhea; failure to thrive (3 mo)Anemia; leucocytosis; renal and hepatic dysfunction; acidosis; hyperglycemiaHypoplastic hyperechogenic kidneys; cortical cystsProgressive chronic renal insufficiency by 7 yrMild steatosis; iron deposition in hepatocytes and Kupffer cells; persistent hematopoiesisAtrophic head; absent body and tailFecal elastase deficiencyTransient hyperglycemia at 3 mo; permanent diabetes since 6 yrInsulin 0.42 U/kg per day after therapy onsetNAc. 443C>T (de novo)