A recent article (Morris AL, et al. JPGN 2015; 60: 460-6) provides a detailed analysis of six cases of Byler disease during their first two years of life. These cases were strictly defined and defined by homozygous c.923G>T mutation of ATP8b1.
Presenting features:
- 2 with newborn direct hyperbilirubinemia
- 2 with complications of coagulopathy. “Bleeding diathesis is a particular issue in the Amish community where home delivery is common and vitamin K may not be administered perinatally.”
- 1 with failure to thrive and rickets
- 1 was a sibling identified with newborn genetic testing
Key features:
- Intensive fat-soluble vitamin supplementation was needed. “Vitamin K deficiency can be lethal.”
- Poor growth was frequent (Figure 2): “growth trajectories were generally at the low end of percentiles and did not reflect parental size.” It was “typically responsive to supplementation with medium-chain triglyceride-based formula. and/or use of 30 cal per ounce formulae.”
- Elevated serum bile acids and low normal GGT (Υ-glutamyltranspeptidase)
- Diarrhea was commonly reported
- Intractable pruritus in 4 of 6 children which developed between 6-12 months of age; in two patients rifampin therapy was effective.
- Partial external biliary diversion was used in 4 children during 2nd year of life; there was a “generally favorable response to PEBD.”
- There were not issues noted with portal hypertension
Bottomline: This report shares some practical experience with this rare disorder.
Related blog posts:
- Bleeding due to vitamin K deficiency | gutsandgrowth
- Genetic Testing and the Future of Pediatric Gastroenterology”
- Understanding Cholestatic Pruritus | gutsandgrowth
- Itchy and Scratchy | gutsandgrowth
- Severe Pruritus with Alagille Syndrome | gutsandgrowth
- BRIC, PFIC, and nasobiliary drainage | gutsandgrowth
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