Meconium ileus and pancreatic sufficiency with D1152H mutation: A case report and review of the literature.

Autor: Lang E; Division of Pediatric Pulmonary Medicine, Hassenfeld Children's Hospital, NYU Langone Health, 4th Floor, New York, NY 10016, United States., Kiernan B; Division of Pediatric Gastroenterology, Hassenfeld Children's Hospital, NYU Langone Health, New York, NY, United States., Muise ED; Division of Pediatric Pulmonary Medicine, Hassenfeld Children's Hospital, NYU Langone Health, 4th Floor, New York, NY 10016, United States., Giusti R; Division of Pediatric Pulmonary Medicine, Hassenfeld Children's Hospital, NYU Langone Health, 4th Floor, New York, NY 10016, United States. Electronic address: Robert.Giusti@nyulangone.org.
Jazyk: angličtina
Zdroj: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2023 Nov; Vol. 22 (6), pp. 1125-1127. Date of Electronic Publication: 2023 Jul 07.
DOI: 10.1016/j.jcf.2023.02.002
Abstrakt: 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 intervention with small bowel resection. The sweat testing was normal, and this child presently remains PS, however at age 5 continues to experience short gut syndrome and failure to thrive. Eight cases were identified in the CF Registry and seven cases in the literature describing patients with D1152H and echogenic bowel (EB) or MI. Our case highlights the importance of CFTR gene sequencing in infants with EB or MI and sweat testing not suggestive of CF. It is our practice to perform full CFTR gene sequencing for infants who present with MI, recognizing protocols for newborn screening across the United States vary. Increased awareness of D1152H association with PS may also well inform both prenatal and postnatal genetic counseling.
Competing Interests: Declaration of Competing Interest I have no competing interest related to this submission
(Copyright © 2023 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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