Cholestasis ; diagnosis ; Humans

Idiopathic adulthood ductopenia (IAD) is a chronic cholestatic liver disease of unknown etiology characterized by adult onset, an absence of autoantibodies, inflammatory bowel disease, and a loss of interlobular bile ducts. In the present report, a case fulfilling the IAD criteria is described. A 19-year-old man was admitted to the hospital for persistent elevation of transaminases and alkaline phosphatase without clinical symptoms. Viral hepatitis markers and autoantibodies were absent. The patient had a normal extrahepatic biliary tree and had no evidence of inflammatory bowel disease. A liver biopsy specimen showed absence of interlobular bile ducts from 58% of the portal tracts. He was diagnosed with IAD and was treated with ursodeoxycholic acid.
Adult ; Cholestasis, Intrahepatic/*diagnosis/etiology/pathology ; Chronic Disease ; Humans ; Male

OBJECTIVETo investigate the current status of research on infantile cholestatic liver disease in China and future research trends.

METHODSA co-word analysis was performed in October 2016. Document retrieval and screening were performed in the Chinese databases CNKI and Wanfang Data using "cholestasis" and "infant" as key words. Excel 2010 was used to establish a co-occurrence matrix of high-frequency key words, and Ucinet 6.0 and Netdraw were used to develop a visualized network of these high-frequency key words.

RESULTSA total of 383 articles were included. The co-occurrence analysis showed that "infant" and "cholestasis" were the core of research in this field, and "infantile hepatitis syndrome", "neonate", "intrahepatic", "biliary atresia", "heredity and metabolism", "hepatitis", "cytomegalovirus", "jaundice", and "conjugated bilirubin" were main research topics. Most of the other articles focused on "parenteral nutrition", "hepatobiliary imaging", "gene mutation", and "liver biopsy". There were relatively few articles on surgical diagnostic techniques and treatment for this disease.

CONCLUSIONSThe research on infantile cholestatic liver disease in China focuses on etiology and differential diagnosis, and genetic diagnosis has become a hot topic in recent years. The research on treatment should be enhanced, and new diagnostic techniques are the research interest in future.

Cholestasis, Intrahepatic ; diagnosis ; etiology ; genetics ; therapy ; Humans ; Infant

Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive disorder of cholestasis of hepatocellular origin, typically seen in infancy or childhood caused by a defect in the ABCB4 located on chromosome 7. Here we report on an older patient, aged 15, who presented with biochemical testing that led to an initial consideration of a diagnosis of Wilson disease (WD) resulting in a delayed diagnosis of PFIC3. Diagnosis of PFIC3 was later confirmed by molecular studies that identified novel mutations in the ABCB4 gene. Cholestasis due to PFIC3 can cause elevated hepatic copper and increased urine copper excretion that overlap with current diagnostic criteria for WD. Molecular diagnostics are very useful for establishing the diagnosis of PFIC3. Ursodeoxycholic acid ameliorates cholestasis in PFIC3, and may help mediate a reduction in hepatic copper content in response to treatment.
Cholestasis ; Cholestasis, Intrahepatic* ; Chromosomes, Human, Pair 7 ; Copper ; Delayed Diagnosis ; Diagnosis* ; Hepatolenticular Degeneration* ; Humans ; Molecular Biology* ; Pathology, Molecular ; Ursodeoxycholic Acid

Cholestasis ; diagnosis ; Chronic Disease ; Diagnosis, Differential ; Humans ; Infant ; Jaundice, Obstructive ; diagnosis ; Male

Cholestasis results from impairment in the excretion of bile, which may be due to mechanical obstruction of bile flow or impairment of excretion of bile components into the bile canaliculus. When present, cholestasis warrants prompt diagnosis and treatment. The differential diagnosis of cholestasis beyond the neonatal period is broad and includes congenital and acquired etiologies. It is imperative that the clinician differentiates between intrahepatic and extrahepatic origin of cholestasis. Treatment may be supportive or curative and depends on the etiology. Recent literature shows that optimal nutritional and medical support also plays an integral role in the management of pediatric patients with chronic cholestasis. This review will provide a broad overview of the pathophysiology, diagnostic approach, and management of cholestasis beyond the neonatal and infancy periods.
Alagille Syndrome ; Bile ; Bile Canaliculi ; Cholelithiasis ; Cholestasis* ; Diagnosis ; Diagnosis, Differential ; Hepatitis ; Hepatolenticular Degeneration ; Humans ; Jaundice ; Pruritus

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

Cholestasis, Intrahepatic ; diagnosis ; pathology ; therapy ; Female ; Humans ; Pregnancy ; Pregnancy Complications ; diagnosis ; pathology ; therapy

Cholestasis, Intrahepatic ; diagnosis ; therapy ; Female ; Humans ; Pregnancy ; Pregnancy Complications ; diagnosis ; therapy

We retrospectively evaluated the utility of Tc-99m DISIDA hepatobiliary scintigraphy and percutaneous needle biopsy in differentiating biliary atresia from intraheaptic cholestasis in 60 consecutive infants. Twenty three patients proved to have biliary atresia and remaining 37 patients had intraheaptic cholestasis such as neonatal heaptitis (34 patients), TPN induced jaundice (2 patients) and Dubin-Johnson syndrome (1 patient). All sixty patients underwent Tc-99m DISIDA hepatobiliary scintigraphy with phenobarbital pretreatment. Of 23 patients with biliary atresia, 22 were correctly interpreted showing 96% sensitivity while of 37 patients with intraheaptic cholestasis, only 12 had intestinal excretion of radionuclide showing 32% specificity. Forty needle biopsies were carried out in 17 patients with biliary atresia and 23 patients with intraheaptic cholestasis. Of 40 biopses, 37 were correctly interpreted as either having biliary atresia or intrahepatic cholestasis showing overall diagnostic accuracy of 93%. Of 3 misdiagnostic cases, the histologic findings of two patients with biliary atresia (aged 43 days and 54 days at the first needle biopsy) essentially were the same as those of neonatal heaptitis but follow-up biopsies showed the findings consistent with biliary atresia. The histologic findings of the 3rd patient (VLBW premie with history of 8 weeks TPN) showed mild ductal proliferation and portal fibrosis being interpreted suspicious biliary atresia, but jaundice resolved gradually. In short, the patients who have intestinal excretion of radionuclide on Tc-99m DISIDA hepatobiliary scintigraphy, biliary atresia can be ruled out. But the patients who do not have intestinal excretion of radionuclide should have further investigation as needle biopsy because of high degree of accuracy of percutaneous needle biopsies in differentiating biliary atresia from intrahepatic cholestasis. We conclude that judicious use of a combination of Tc-99m DISIDA hepatobiliary scintigraphy and percutaneous needle biopsy gives correct diagnosis in 95% or more of infantile cholestasis.
Biliary Atresia* ; Biopsy ; Biopsy, Needle* ; Cholestasis ; Cholestasis, Intrahepatic* ; Diagnosis* ; Fibrosis ; Follow-Up Studies ; Humans ; Infant ; Jaundice ; Jaundice, Chronic Idiopathic ; Needles* ; Phenobarbital ; Radionuclide Imaging* ; Retrospective Studies ; Sensitivity and Specificity