The present study compares the clinical presentation and diagnostic features of meconium ileus (MI) in newborns with and without cystic fibrosis (CF). A retrospective study of 43 patients treated in the Pediatric Surgical Center of Amsterdam was performed. Twenty-three of the patients (53.5%) were diagnosed as having CF. Complex MI was significantly more frequent in patients without CF, and these patients had lower gestational ages and birth weights than patients with CF. All of the patients with complex MI had homozygous DF508 mutations, whereas the patients with simple MI also had other mutations. None of the patients with other mutations had complex MI. Therefore, we conclude that the clinical entity of MI represents a spectrum of underlying pathologies.

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPG.0b013e3181bb3427DOI Listing

Publication Analysis

Top Keywords

meconium ileus
8
ileus newborns
8
newborns cystic
8
cystic fibrosis
8
patients
8
patients patients
8
mutations patients
8
clinical genetic
4
genetic characteristics
4
characteristics meconium
4

Similar Publications

Sutureless Loop Enterostomy in Very Low and Extremely Low Birth Weight Infants.

Cureus

November 2024

Department of Hepato-Biliary-Pancreatic Surgery and Pediatric Surgery, Saitama Medical Center, Saitama Medical University, Kawagoe, JPN.

Introduction Sutureless enterostomy is used as an effective technique for constructing an enterostomy in very low and extremely low birth weight infants in Japan. Sutureless enterostomy is a separate type of enterostomy procedure for low birth weight infants. We adapted this technique and developed sutureless loop enterostomy (SLE), an approach without a skin bridge in which the intestinal wall is not sutured to the abdominal wall.

View Article and Find Full Text PDF

As cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies including elexacaftor/tezacaftor/ivacaftor (ETI) have become widely used in eligible patients with cystic fibrosis (CF), the use of these medications in pregnant people has become a critical area of investigation. Since these medications appear generally safe to both mother and fetus when taken by pregnant people with CF, interest has pivoted to the use of ETI in CF carrier mothers to decrease morbidity and mortality from meconium ileus (MI) in fetuses with cystic fibrosis. Here we discuss three infants at our institution with ultrasound findings of MI who were exposed to prenatal ETI through CF carrier mothers for the purposes of treating MI and lowering risk of intestinal complications from this severe manifestation of CF.

View Article and Find Full Text PDF

Prediction of Intestinal Perforation by Daily Radiographic Findings in Very Low Birth Weight Infants With Meconium Ileus.

J Pediatr Surg

November 2024

Department of Pediatric Surgery, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, 260-8677, Japan.

Background: This study aimed to develop a prediction model for intestinal perforation from meconium ileus (MI) based on findings from plain X-ray images.

Methods: Very low birth weight (VLBW) infants with MI hospitalized in two tertiary centers between 2011 and 2022 were included in this study. We retrospectively reviewed clinical parameters and assessed plain X-ray images from 0 to 5 days of age.

View Article and Find Full Text PDF

Unlabelled: Newborn screening for cystic fibrosis (CF-NBS) using an IRT-DNA algorithm with a 12 CFTR-variant panel and an IRT/IRT failsafe was officially implemented in the French-speaking Community of Belgium in January 2020. This screening protocol was evaluated after 4 years according to the criteria defined by the European Cystic Fibrosis Society's working group on neonatal screening. Immunoreactive trypsinogen concentration (IRT) was measured on dried blood spots collected between the second and the fourth day of life.

View Article and Find Full Text PDF

In about 10%-15% of instances, meconium ileus (MI) is the first sign of cystic fibrosis (CF). If a newborn exhibits signs of intestinal obstruction and does not pass meconium within a short period of time after birth, MI is suspected. The cystic fibrosis transmembrane conductance regulator gene (CFTR), which is found on chromosome 7q31, is mutated in CF patients.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!