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.

Adult ; Bile Ducts, Intrahepatic ; abnormalities ; Cholestasis, Intrahepatic ; diagnosis ; etiology ; therapy ; Female ; Humans

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

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

Adenosine Triphosphatases ; genetics ; Adolescent ; Adult ; Cholestasis, Intrahepatic ; diagnosis ; genetics ; Chronic Disease ; Female ; Humans ; Male ; Young Adult

Mitochondrial respiratory chain deficiency is a common cause of mitochondrial disease in children. This study aimed to review the clinical, enzymatic and genetic characteristics of a Chinese boy with progressive intrahepatic cholestasis due to mitochondrial respiratory chain complex I deficiency. The boy developed diarrhea from the age of 13 months, followed by progressive body weight loss, jaundice and weakness. His urine organic acids, blood amino acids and acylcarnitines profiles were normal. Mitochondrial respiratory chain complexes I to V activities in peripheral leukocytes were measured using spectrophotometric assay. Complex I activity was reduced. 5821G>A mutation was indentified by gene sequencing on tRNA-cys of mitochondrial gene in the patient and his mother. Vitamin supplements, liver protection, antibiotics and plasma infusion were not effective in the patient. Unfortunately, the boy died at the age of 17 months. Mitochondrial respiratory chain complex I deficiency is the most common mitochondrial respiratory chain disorder. This was the first case of intrahepatic cholestasis due to complex I deficiency confirmed by mitochondrial respiratory chain enzyme activity assay and gene analysis in China. It was concluded that mitochondrial hepatopathy is one of major causes of metabolic hepatopathy. Biochemical assay, mitochondrial respiratory chain complex activities assay and genetic analysis are crucial for the etiological diagnosis of metabolic hepatopathy.
Cholestasis, Intrahepatic ; diagnosis ; etiology ; Diagnosis, Differential ; Electron Transport Complex I ; deficiency ; Humans ; Infant ; Male ; Mitochondrial Diseases ; complications

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

Primary biliary cholangitis (PBC) is an autoimmune liver disease characterized by progressive destruction of the intrahepatic bile ducts, leading to cholestasis. PBC is known to have both hepatic and extrahepatic manifestations. Extrahepatic manifestations are seen in up to 73% of patients with PBC, with the most common being Sjogren’s syndrome, thyroid dysfunction and systemic sclerosis. It is thought that patients with PBC are at increased risk of developing these extrahepatic manifestations, almost all of which are autoimmune, because patients with autoimmune disease are at higher risk of developing another autoimmune condition. Due to the high prevalence of extrahepatic diseases in patients with PBC, it is important to complete a thorough medical history at the time of diagnosis. Prompt recognition of extrahepatic disease can lead to improved patient outcomes and quality of life. The following review summarizes the most common extrahepatic conditions associated with PBC.
Autoimmune Diseases ; Bile Ducts, Intrahepatic ; Cholangitis* ; Cholestasis ; Diagnosis ; Humans ; Liver Diseases ; Prevalence ; Quality of Life ; Scleroderma, Systemic ; Thyroid Gland