ILEUS MECONIAL LA NOU-NĂSCUT CU FIBROZA CHISTICĂ CU GENOTIP CFTR SEVER

Abstract

Introducere. Fibroza chistică (FC) este o boală genetică autosomal recesivă cauzată de mutaţii ale genei CFTR, care afectează transportul transepitelial al clorului şi so-diului, ducând la secreţii vâscoase. Ileusul meconial apare la 10-20% dintre nou-născuţii cu fibroză chistică, fiind un semn clinic precoce important. Scop. Evaluarea unui copil cu debut neonatal de fibroză chistică prin ileus meconial şi semnificaţia managementului multidisciplinar în formele severe cu manifestări pulmonare şi digestive. Material şi metode. Lucrarea se bazează pe analiza unui caz clinic, pacient vârstă 6 luni, internat în Institutul Mamei şi Copilului cu diagnosticul Fibroză Chistică, confirmat genetic, imagistic, biochimic. Informaţiile clinico-anamnestice şi rezultatele investigaţiilor au fost colectate din fişele medicale ambulatorii şi de staţionar a pacientului. Rezultate. Nou-născut, cu masa de 3200 g, a prezentat absenţa meco-niului la naştere. Evaluarea imagistică abdominală ecografică şi radiologică, consultul unei echipe multidisciplinare (chirurg pediatru, pneumolog, genetician), a sugerat ocluzie intestinală, anomalie congenitală de intestin, ileus me-conial şi posibil fibroză chistică. S-a intervenit chirurgical de urgenţă, realizându-se o enterostomie. Diagnosticul de fibroză chistică a fost confirmat genetic (genotip homozi-got delF508/delF508), iar elastaza fecală Concluzii. Ileusul meconial reprezintă un semn precoce al fibrozei chistice. Un diagnostic rapid, urmat de un management complex şi o abordare terapeutică multidisciplinară, contribuie semnificativ la îmbunătăţirea evoluţiei clinice şi a prognosticului pe termen lung pentru pacient.

Introduction. Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene, which affects the transepithelial transport of chloride and sodium, leading to viscous secretions. Meconium ileus occurs in 10-20% of newborns with cystic fibrosis, being an important early clinical sign. Objective. Evaluation of a child with neonatal onset of cystic fibrosis through meconium ileus and the significance of multidisciplinary management in severe forms with pulmonary and digestive manifestations. Material and methods. The work is based on the analysis of a clinical case, a 6-month-old patient, hospitalized in the Institute of Mother and Child with the diagnosis of CF, confirmed genetically, imaging, biochemically. Clinical and anamnestic information and investigation results were collected from outpatient and inpatient medical records. Results. Newborn, weighing 3200 grams, presented the absence of meconium at birth. Abdominal ultrasound and radiological imaging evaluation, consultation of a multidisciplinary team (pediatric surgeon, pulmonologist, geneticist), suggested intestinal occlusion, congenital intestinal anomaly, meconium ileus and possibly cystic fibrosis. Emergency surgery was performed, performing an enterostomy. The diagnosis of cystic fibrosis was genetically confirmed (homozygous genotype delF508/ delF508), and fecal elastase < 15 mcg/g indicated severe exocrine pancreatic insufficiency. At four months, intestinal continuity was restored. Conclusion. Meconium ileus is an early suggestive sign of CF, frequently representing the first clinical manifestation in newborns. A complex management and a multidisciplinary therapeutic approach, significantly contributes to improving the clinical evolution and long-term prognosis for the patient.