Clinical and histopathologic features of sodium taurocholate cotransporting polypeptide deficiency in pediatric patients

Autor: Zai-sheng Cai, Ben-Ping Zhang, Sainan Shu, Dao Wen Wang, Zhi-Hua Huang, Chao Zhang, Hui Xu, Chen Dong, Xiao-ping Luo, Hong Wang
Rok vydání: 2019
Předmět:
sodium taurocholate cotransporting polypeptide
Gene mutation
Pediatrics
Gastroenterology
Child Development
0302 clinical medicine
Liver Function Tests
030212 general & internal medicine
Membrane Glycoproteins
Symporters
Bile acid
biology
medicine.diagnostic_test
Liver Diseases
General Medicine
Gallstones
Jaundice
Liver
Child
Preschool
030220 oncology & carcinogenesis
medicine.symptom
Research Article
Image-Guided Biopsy
China
medicine.medical_specialty
hyperbilirubinemia
medicine.drug_class
Observational Study
Organic Anion Transporters
Sodium-Dependent
digestive system
Asymptomatic
Bile Acids and Salts
03 medical and health sciences
Internal medicine
medicine
Humans
Genetic Testing
Retrospective Studies
SLC10A1
business.industry
Infant
Retrospective cohort study
medicine.disease
Mutation
biology.protein
business
Liver function tests
hyperbileacidemia
Zdroj: Medicine
ISSN: 1536-5964
0025-7974
DOI: 10.1097/md.0000000000017305
Popis: Until now, the recognition of sodium taurocholate cotransporting polypeptide (NTCP) deficiency has been mainly based on sporadic case reports. It was previously believed to be mildly symptomatic and resulting in mild liver dysfunction. However, to our knowledge, there have been no reports about the histopathologic and ultrastructural pathologic characteristics of the disease. The aim of the study was to analyze the clinical, histopathologic and ultrastructural pathologic characteristics of NTCP deficiency in 13 pediatric patients. From August 2012 to October 2018, this retrospective study conducted in the Department of Pediatrics of Tongji Hospital, China analyzed the data of 13 NTCP deficient patients with an SLC10A1 gene mutation. Except for NTCP deficiency, no other liver diseases were present in the patients, which was determined by both a genetic testing panel for jaundice and by reviewing medical records. The laboratory results, imaging, histopathologic, and ultrastructural pathologic information were recorded for analysis. The serum level of total bile acid was high in all 13 patients. All patients had adequate growth and development. Eight of the patients (8/13) presented with visible jaundice and 12 (12/13) were found to have hyperbilirubinemia. A needle liver biopsy was performed in 11 cases, which revealed slightly chronic inflammation in all 11 patients. One of the patients (1/13) was found to be suffering from gallstones. The data showed that although NTCP deficiency was often asymptomatic, some of the patients showed obvious clinical expressions, such as jaundice. Among the 13 pediatric patients with NTCP deficiency, both the biochemical and histopathologic features were similar to those of mild hepatocellular jaundice. In addition, it was determined that the clinical features in the patient with gallstones may have been caused by NTCP deficiency.
Databáze: OpenAIRE
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