Humans ; Liver Diseases, Alcoholic ; diagnosis ; etiology ; therapy

Cysts ; Humans ; Liver ; Liver Diseases ; Punctures ; Takotsubo Cardiomyopathy/etiology*

OBJECTIVETo study the features of histopathologic and ultrastructural pathologic changes of liver biopsy in patients with infantile cholestatic disease, and to investigate its diagnostic significance combining with the clinical data.

METHODSThirty-six children diagnosed as infantile cholestatic disease and received liver biopsy in Chongqing Medical University Children's Hospital from Jun 2007 to Oct 2008 were enrolled and the pathologic and ultrastructural pathologic changes of liver were analyzed.

RESULTSMorphologic changes under light microscope in liver tissues included hepatocyte swelling, hepatocyte denaturation, hepatocyte necrosis, multinucleated giant cell formation, bile duct proliferation, fiber tissues proliferation and inflammatory cells infiltration in liver lobules and portal regions. The characteristics of cholestasis including intralobular cholestasis, acinus formation, feather-like cytoplasmic filaments and bile stasis in bile canaliculi were observed. The morphologic changes of biliary atresia were observed in 7 cases whose image investigations showed no obstruction of biliary tract. Nuclear changes, resolution of cytoplasm, inflammatory cell infiltration, collagen fiber proliferation and increased number of lysosomes were observed under electromicroscope. Two cases of glycogen storage disease, 1 case of Niemann-Pick disease and 1 case of lipid storage disease with unknown cause were confirmed by the combination of histological changes and clinical manifestations.

CONCLUSIONCommon pathologic changes of liver tissues existed under light microscope or electroscope. The diagnosis of hereditary metabolic disorders could be made increasingly by application of these two technologies in clinical practice. It is difficult to diagnose biliary atresia in early childhood by image investigations and the pathological changes of liver tissues are helpful.

Cholestasis ; diagnosis ; etiology ; pathology ; Female ; Humans ; Infant ; Liver ; pathology ; Liver Diseases ; diagnosis ; etiology ; pathology ; Male

Adult ; Bone Diseases, Metabolic ; etiology ; Female ; Fractures, Spontaneous ; etiology ; Humans ; Liver Diseases, Alcoholic ; complications

Biliary Tract Diseases ; Humans ; Liver Diseases ; Liver Transplantation/adverse effects* ; Postoperative Complications/etiology* ; Retrospective Studies

Adult ; Female ; Humans ; Liver Diseases ; etiology ; Syphilis ; complications

Animals ; Humans ; Liver Diseases ; etiology ; metabolism ; therapy ; Proteome ; Rats

A girl, aged 8 years, developed jaundice and liver dysfunction in the neonatal period, with congenital glaucoma diagnosed on day 5 after birth, hypertension and unusual facies (broad forehead, hypertelorism and deep-set eyes). Cholestasis was the main type of liver dysfunction. Cardiac macrovascular CTA showed stenosis at the abdominal aorta and the beginning of the bilateral renal arteries. Whole exon sequencing revealed a heterozygous frameshift mutation, c.1485delC (absence of cytosine), in exon 12 of the JAG1gene. The girl was diagnosed with Alagille syndrome and was given transaminase-lowering, cholagogic and antihypertensive treatment with multiple drugs. There were significant reductions in serum levels of alanine aminotransferase, aspartate aminotransferase and total bile acid, but blood pressure fluctuated between 102-140 mm Hg/53-89 mm Hg. After renal artery angiography and balloon dilatation angioplasty, the girl was given oral administration of antihypertensive drugs, and blood pressure was controlled at a level of 110-120 mm Hg/60-80 mm Hg. The rare disease Alagille syndrome should be considered when a child has refractory hypertension with the involvement of multiple systems, especially liver dysfunction with cholestasis as the main manifestation. Genetic causes should be analyzed for a early diagnosis.
Alagille Syndrome ; Blood Pressure ; Child ; Female ; Humans ; Hypertension ; etiology ; Liver Diseases ; etiology ; Renal Artery

Aged ; Female ; Humans ; Jaundice ; complications ; Liver Cirrhosis ; etiology ; Liver Diseases ; complications ; Sarcoidosis ; complications

Blindness, Cortical ; etiology ; Chemical and Drug Induced Liver Injury ; complications ; Humans ; Liver Diseases ; complications