Kasai Portoenterostomy at a Slightly Delayed Age and Native Liver Survival in Children With Biliary Atresia: Single Center Experience.

OBJECTIVES: We studied the modifiable prognostic factors that extend native liver survival at 2 years after Kasai portoenterostomy (KPE). METHODS: We reviewed hospital records of patients with neonatal cholestasis, with focus on infants diagnosed with biliary atresia in a tertiary care hospital between January, 2014 and May, 2021. We determined the association of outcome with clinical and laboratory variables. RESULTS: Infants who underwent KPE at a median (IQR) age of 76 (72-79) days had best outcomes, with minimal severe post-KPE complications and 2-year survival rate of 84.6%, compared to other infants (younger and older days at KPE). The median (IQR) weight at KPE in this group was 4.66 (4.2, 5.0) kg. CONCLUSION: In contrast to traditional recommendations, babies with median age at KPE of 76 days had superior native liver survival (84.6%) and reduced post-KPE complications, as compared to earlier KPE age. Nutritional status and weight of infant at KPE could be associated with this survival difference. This observation needs confirmation through multicentric prospective study.

Fructose-1,6-bisphosphatase deficiency caused by a novel homozygous Alu element insertion in the FBP1 gene and delayed diagnosis.

Fructose-1,6-bisphosphatase (FBPase) enzyme deficiency is one of the treatable autosomal recessive inherited metabolic disorders. If diagnosed early, FBPase deficiency has a favorable prognosis. We report the clinical and biochemical findings of a 9.5-year-old female child with FBPase deficiency. FBPase deficiency is caused by a homozygous Arthrobacter luteus (Alu) insertion in the FBP1 gene, reported for the first time.