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Clinics in Colon and Rectal Surgery Mar 2018Cystic fibrosis is one of the most common inheritable traits in Caucasians. Meconium ileus and its potential complications are the most likely reasons that these... (Review)
Review
Cystic fibrosis is one of the most common inheritable traits in Caucasians. Meconium ileus and its potential complications are the most likely reasons that these patients will need surgical care. Surgical intervention is usually needed in the neonatal period but may also be required later in life. This article discusses the various ways cystic fibrosis can affect the gastrointestinal tract. Both the operative and nonoperative management of complicated and uncomplicated meconium ileus are discussed in the neonatal period as well as long-term issues, such as distal intestinal obstructive syndrome, fibrosing colonopathy, and rectal prolapse, all of which may be seen in older children and adults.
PubMed: 29487495
DOI: 10.1055/s-0037-1609027 -
Journal of Cystic Fibrosis : Official... Nov 2017Meconium ileus (MI) is often the first manifestation of cystic fibrosis (CF) and occurs in approximately 20% of patients diagnosed with CF. This article reviews the... (Review)
Review
Meconium ileus (MI) is often the first manifestation of cystic fibrosis (CF) and occurs in approximately 20% of patients diagnosed with CF. This article reviews the pathophysiology of MI and its clinical presentation. It focuses on the medical and surgical management emphasizing the importance of nutrition and a multidisciplinary approach to improve both short-term and long-term outcomes for CF patients with MI.
Topics: Cystic Fibrosis; Humans; Infant, Newborn; Meconium Ileus; Patient Care Management
PubMed: 28986020
DOI: 10.1016/j.jcf.2017.06.007 -
Current Problems in Surgery Sep 1994Meconium ileus is a manifestation of intestinal and pancreatic dysfunction that results in the accumulation of a sticky and inspissated intraluminal meconium, which in... (Review)
Review
Meconium ileus is a manifestation of intestinal and pancreatic dysfunction that results in the accumulation of a sticky and inspissated intraluminal meconium, which in most cases results from the autosomal recessive disease cystic fibrosis. Both nonoperative and operative therapies are effective in relieving this small-bowel obstruction; in the past, although less so today, a successful nonoperative treatment was associated with a more favorable outcome. Once the meconium ileus is relieved successfully, and the diagnosis of cystic fibrosis is established, the treatment for the intestinal manifestations of the disease focuses on enzyme replacement to augment patient nutritional status. Simultaneously, the treatment of the life-threatening pulmonary disease focuses on mucous retention and chronic infection in the lungs. Future therapies for patients with cystic fibrosis include lung transplantation, pharmacologic manipulation of the epithelial cell abnormality, and gene transfer therapy into the respiratory epithelium.
Topics: Cystic Fibrosis; Diagnosis, Differential; Humans; Infant, Newborn; Intestinal Obstruction; Meconium
PubMed: 8062591
DOI: 10.1016/0011-3840(94)90040-x -
The Surgical Clinics of North America Oct 2022Cystic fibrosis is an autosomal-recessive defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene located on chromosome 7 that affects 1 in 2500... (Review)
Review
Cystic fibrosis is an autosomal-recessive defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene located on chromosome 7 that affects 1 in 2500 live White births. Defects in the gene lead to abnormally thick secretions causing chronic obstruction in the respiratory and gastrointestinal tracts. Common gastrointestinal pathology in children with cystic fibrosis includes meconium ileus in infancy and distal intestinal obstruction syndrome in childhood and exocrine pancreatic insufficiency, constipation, and rectal prolapse. This article describes the presentation, diagnosis, and management of these conditions in patients with cystic fibrosis, from birth to adulthood.
Topics: Adult; Child; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Humans; Ileus; Infant, Newborn; Intestinal Obstruction; Meconium; Meconium Ileus
PubMed: 36209752
DOI: 10.1016/j.suc.2022.07.016 -
Journal of Cystic Fibrosis : Official... Nov 2019
Topics: Cohort Studies; Correlation of Data; Cystic Fibrosis; Delayed Diagnosis; Humans; Infant, Newborn; Meconium Ileus; Mortality; Patient Care Management; Prognosis; Severity of Illness Index
PubMed: 31668933
DOI: 10.1016/j.jcf.2019.10.003 -
Journal of Cystic Fibrosis : Official... Nov 2023Meconium ileus (MI) is one presenting manifestation of Cystic Fibrosis (CF), classically associated with class I-III CF transmembrane conductance regulator (CFTR)... (Review)
Review
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.
Topics: Infant, Newborn; Child; Infant; Female; Pregnancy; Humans; Child, Preschool; Cystic Fibrosis Transmembrane Conductance Regulator; Cystic Fibrosis; Meconium Ileus; Mutation; Phenotype; Ileus; Meconium
PubMed: 37423798
DOI: 10.1016/j.jcf.2023.02.002 -
Radiology Apr 1957
Topics: Child; Cystic Fibrosis; Fetal Diseases; Humans; Ileus; Infant; Infant, Newborn; Intestinal Obstruction; Meconium
PubMed: 13432186
DOI: 10.1148/68.4.568 -
Canadian Medical Association Journal Feb 1936
PubMed: 20320161
DOI: No ID Found -
The American Surgeon Sep 1964
Topics: Acetylcysteine; Child; Cysteine; Cystic Fibrosis; Diagnosis; Humans; Ileus; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Obstruction; Intestinal Pseudo-Obstruction; Intussusception; Meconium; Pancreatic Extracts; Rectal Prolapse; Surgical Procedures, Operative
PubMed: 14209702
DOI: No ID Found