Distal intestinal obstruction syndrome: a diagnostic and therapeutic challenge in cystic fibrosis

• Published in: Jornal de Pediatria (Versão em Português) 2020-11, Vol.96 (6), p.732-740
• Main Authors: Sandy, Natascha S., Massabki, Lilian H.P., Gonçalves, Aline C., Ribeiro, Antonio F., Ribeiro, Jose D., Servidoni, Maria de Fátima C.P., Lomazi, Elizete A.
• Format: Article
• Language: Portuguese
• Subjects: Child; Criança; Cystic fibrosis; Diagnosis; Diagnóstico; Fibrose cística; Intestinal obstruction; Obstrução intestinal; Terapêutica; Therapeutics
• ISSN: 2255-5536; 2255-5536
• DOI: 10.1016/j.jpedp.2019.08.007

To evaluate the demographics, genotype, and clinical presentation of pediatric patients presenting with distal intestinal obstruction syndrome (DIOS), and factors associated with DIOS recurrence. Case series of ten patients (median age 13.2 years), followed‐up in a reference center, retrospectively assessed. Data analyzed included age, gender, cystic fibrosis genotype, meconium ileus at birth, hydration status, pulmonary exacerbation, Pseudomonas aeruginosa colonization, pancreatic insufficiency (PI), body mass index (BMI) at the episodes, clinical manifestations of DIOS, imaging studies performed, acute management of DIOS, maintenance therapy, and recurrence on follow‐up. All patients had two positive sweat chloride tests, and nine of ten also had genotype study. The most common genotype identified was homozygosis for the delta F508 mutation. In seven cases, a previous history of meconium ileus was reported. All patients had pancreatic insufficiency. Diagnosis of DIOS was based on clinical and imaging findings. Of the total number of episodes, 85% were successfully managed with oral osmotic laxatives and/or rectal therapy (glycerin enema or saline irrigation). Recurrence was observed in five of ten patients. In this first report of pediatric DIOS in South America, the presence of two risk factors for DIOS occurrence was universal: pancreatic insufficiency and severe genotype. Medical history of meconium ileus at birth was present in most patients, as well as in the subgroup with DIOS recurrence. The diagnosis relied mainly on the clinical presentation and on abdominal imaging. The practices in the management of episodes varied, likely reflecting changes in the management of this syndrome throughout time. Avaliar os dados demográficos, o genótipo e o quadro clínico de pacientes pediátricos que apresentam síndrome da obstrução intestinal distal (DIOS) e os fatores associados à recidiva da DIOS. Casuística de 10 pacientes (média de 13,2 anos) monitorados em um centro de referência e avaliados de forma retroativa. Os dados analisados incluíram idade, sexo, genótipo da fibrose cística, íleo meconial no nascimento, estado de hidratação, exacerbação pulmonar, colonização por Pseudomonas aeruginosa, insuficiência pancreática (IP), IMC nos episódios, manifestações clínicas da DIOS, estudos de diagnóstico por imagem realizados, manejo agudo da DIOS, terapia de manutenção e recidiva no acompanhamento. Todos os pacientes apresentaram dois exames de cloreto no suor po