Clinical and Genetic Characteristics of Meconium Ileus in Newborns With and Without Cystic Fibrosis

Gorter, Ramon R.; Karimi, Arian; Sleeboom, C.; Kneepkens, C. M. F.; Heij, Hugo A.

doi:10.1097/mpg.0b013e3181bb3427

Cited by 56 publications

(40 citation statements)

References 21 publications

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“…Estas terapias en desarrollo incluyen terapia génica del CFTR, farmacoterapia dirigida al CFTR, terapias con agentes osmóti-camente activos y anti-inflamatorios, y evolución del uso de antibióticos a forma inhalada 17 . El compromiso del tracto gastrointestinal se presenta en el 85-90% de los casos, siendo la obstrucción intestinal postnatal temprana debido a íleo meconial una manifestación frecuente, presentándose como uno de los signos iníciales en el 10-15% de los pacientes 8,18,19 . Esta condición es el resultado de un espesamiento anormal del meconio causado por producción anormal de mucoproteinas (80-90%), elevación en los niveles de calcio y la disfunción de los canales de cloro en la membrana del enterocito 2,19 .…”

Section: Discussionunclassified

“…El compromiso del tracto gastrointestinal se presenta en el 85-90% de los casos, siendo la obstrucción intestinal postnatal temprana debido a íleo meconial una manifestación frecuente, presentándose como uno de los signos iníciales en el 10-15% de los pacientes 8,18,19 . Esta condición es el resultado de un espesamiento anormal del meconio causado por producción anormal de mucoproteinas (80-90%), elevación en los niveles de calcio y la disfunción de los canales de cloro en la membrana del enterocito 2,19 . Este cuadro se ha asociado a otras complicaciones, incluyendo vólvulo intestinal y atresia intestinal hasta en un 50% de los pacientes 8 , situaciones que no se presentaron en este caso.…”

Section: Discussionunclassified

“…Sin embargo, otras manifestaciones de la enfermedad no han logrado correlacionarse, indicando que hay factores por fuera del genotipo del CFTR que juegan un rol modulador en las complicaciones y curso de esta enfermedad de "un solo gen". Entre estos cuadros que no han sido correlacionados con la mutación del CFTR se incluyen los ya mencionados íleo meconial y síndrome por obstrucción intestinal distal, este último presentándose en niños un poco mayores 18,19,24,25 . Estos factores reguladores podrían ser ambientales, como por ejemplo influenciados por alimentación o estadía en uCI, o gené-ticos 18,23 ; la presencia de diferencias fenotípicas en hermanos y hermanos gemelos hace pensar, sobretodo, en leves diferencias genotípicas.…”

Section: Discussionunclassified

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Variabilidad fenotípica de la fibrosis quística: reporte de 2 gemelos con la mutación F508/F508

Hernández-Amaris

Gómez-Vásquez²,

2014

Rev. chil. pediatr.

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Section: Discussionunclassified

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Variabilidad fenotípica de la fibrosis quística: reporte de 2 gemelos con la mutación F508/F508

Hernández-Amaris

Gómez-Vásquez²,

2014

Rev. chil. pediatr.

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“…Given the fact that ethnicity plays an important role in the occurrence of CF it is of interest to note that MI is generally rare in Malaysia, as is CF in Asia [1]. In general, MI in neonates is thought to account for more than 80% of diagnoses of CF, although only 10-20% of CF patients develop MI [2,3]. …”

Section: Introductionmentioning

confidence: 99%

Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr)

et al. 2014

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BackgroundIn term newborns meconium ileus is frequently associated with cystic fibrosis. Reports on meconium ileus in preterm infants being diagnosed with cystic fibrosis early after birth are very scarce. Associations between genotype and phenotype in cystic fibrosis and its particular comorbidities have been reported.Case presentationTwo extremely preterm twin infants (26 weeks of gestation) born from a Malaysian mother and a Caucasian father were presented with typical signs of meconium ileus. Despite immediate surgery both displayed a unique and finally lethal course. Mutation analysis revealed a novel, probably pathogenic cystic fibrosis mutation, p.Cys524Tyr. The novel mutation might explain the severity of disease next to typical sequelae of prematurity.ConclusionPreterm neonates with meconium ileus have to be evaluated for cystic fibrosis beyond ethnical boundaries, but may take devastating clinical courses despite early treatment. The novel, potentially pathogenic CF mutation p.Cys524Tyr might be associated with severe meconium ileus in neonates. Disease-modifying loci are important targets for intestinal comorbidity of cystic fibrosis.

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“…Though, previously it was considered to be closely associated with cystic fibrosis. The exact pathogenesis of MI in the absence of cystic fibrosis is yet to be known, a spectrum of genetic and pathological abnormalities may play a role 3,4 . There are two types of meconium ileus, simple and complicated.…”

Section: Introductionmentioning

confidence: 99%

Recent Change in Management Pattern of Meconium Ileus at Dhaka Shishu Hospital

Ferdous

Hasan

Nabi

et al. 2018

Chatt Maa Shi Hosp Med Coll J

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Background : Meconium Ileus (MI) accounting for 9-33% of neonatal intestinal obstruction and one of the common cause of intestinal obstruction in neonate. Near about 50% can be present with various complications. Options for surgical management of MI include resection of dilated ileum with primary anastomosis, Bishop-Koop ileostomy, Santulli procedure or Mikulicz procedure and T tube ileostomy. In our center, before January 2015, mostly Mikulicz and few BishopKoop procedures were done for MI. But, the complications were high. From 2015, we started to perform T tube ileostomy and Bishop-Koop procedure in simple MI. In complicated cases Mikulicz and Bishop-Koop procedure were done and the scenario changed. This study was done to compare the outcome of MI surgery before and after January 2015. Methods: This was a retrospective study done in our center during January 2011 to December, 2016 (5 years). All cases were divided into two groups (Group-A: January 2011 to December 2014 and in Group-B: January 2015 to December 2016). Demographic data and surgical outcomes were compared. Results: Total 216 cases were included, in Group-A: 123 patients and others were in Group-B. Simple MI were 49% in Group-A and 56% were in Group-B. Complicated MI presented with small gut volvulus (43.3%) gangrene of loaded ileum (32.2%) perforation with peritonitis (37.8%) intestinal atresia with adhesions (16.3%) and meconium pseudocysts in 12 cases (16%). 11 patients had more than one complication. All the postoperative complications were found significantly high in Group-A except anastomotic leakage. Mortality was also significantly high in Group-A. Conclusion: Morbidity and mortality were significantly reduced with increasing practice of T tube ileostomy and Bishop-Koop procedure in simple and complicated Meconium ileus.

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Clinical and Genetic Characteristics of Meconium Ileus in Newborns With and Without Cystic Fibrosis

Cited by 56 publications

References 21 publications

Variabilidad fenotípica de la fibrosis quística: reporte de 2 gemelos con la mutación F508/F508

Variabilidad fenotípica de la fibrosis quística: reporte de 2 gemelos con la mutación F508/F508

Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr)

Recent Change in Management Pattern of Meconium Ileus at Dhaka Shishu Hospital

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