Article
Meconium ileus and pancreatic sufficiency with D1152H mutation: A case report and review of the literature.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Nov 2023
Lang Emma, Kiernan Bridget, Muise Eleanor D, Giusti Robert
Abstract excerpt
Meconium ileus (MI) is one presenting manifestation of Cystic Fibrosis (CF), classically associated with class I-III CF transmembrane conductance regulator (CFTR) mutations and pancreatic insufficiency (PI). D1152H is a class IV mutation that corresponds with a milder CF phenotype and pancreatic sufficiency (PS). We present the case of an infant with G542X/D1152H mutations and MI who required surgical...
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