Journal
JOURNAL OF PEDIATRICS
Volume 196, Issue -, Pages 161-+Publisher
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2017.12.058
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Funding
- Japan Society for the Promotion of Science [C17K10148, B26870489]
- Program for Integrated Database of Clinical and Genomic Information from the Japan Agency for Medical Research and Development (AMED) [JP17kk0205002]
- Grants-in-Aid for Scientific Research [16K19096] Funding Source: KAKEN
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Objective To clarify the clinical, pathologic, and genetic features of neonatal Dubin-Johnson syndrome. Study design Ten patients with neonatal Dubin-Johnson syndrome were recruited from 6 pediatric centers in Japan between September 2013 and October 2016. Clinical and laboratory course, macroscopic and microscopic liver findings, and molecular genetic findings concerning ATP-binding cassette subfamily C member 2 (ABCC2) were retrospectively and prospectively examined. Results All neonates exhibited cholestasis, evident as prolonged jaundice with or without acholic stools and elevations of serum direct bilirubin as well as gamma-glutamyltransferase or total bile acids. Only 38% (3 of 8) of patients who underwent liver biopsy showed a grossly black liver or melanin-like pigment deposits in hepatocytes; their biopsies were performed in early infancy. Immunohistochemically, all liver specimens showed no expression of multidrug resistance-associated protein 2 but increased expression of the bile salt export pump protein. Homozygous or compound heterozygous pathogenic variants of ABCC2 were identified in all patients, representing 11 distinct pathogenic variants including 2 not previously reported. Conclusions Immunohistochemical staining of the liver for multidrug resistance-associated protein 2 and molecular genetic analysis of ABCC2 are crucial for accurate diagnosis of neonatal Dubin-Johnson syndrome.
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