Open AccessJournal Article
Prehospital emergency service for internal medicine problems in pediatrics; causes, time indices and outcomes
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TLDR
It is recommended to consider CCD in any patient with severe resistant diarrhea to prevent its irreversible and long term organ damage.Abstract:
Objective: Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder of intestinal chloride absorption. Pathognomonic features consist of watery diarrhea, failure to thrive, dehydration and hypokalemic hypochloremic metabolic alkalosis.
Case Presentation: This is the report on an 8-month old Iranian girl with severe and complicated course of CCD and poor response to current treatment. In addition, she had a renal tubular defect in uric acid handling, resulted in persistent hyperuricosuria and hypouricemia.
Conclusion: Specific characteristics of CCD in our population need additional investigation. But, it is recomm¬ended to consider CCD in any patient with severe resistant diarrhea to prevent its irreversible and long term organ damage.read more
Citations
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Journal ArticleDOI
Pseudo-Bartter syndrome in an infant with congenital chloride diarrhoea
Zoran Igrutinovic,Amira Peco-Antic,Nedeljko Radlovic,Biljana Vuletic,Slavica Markovic,Ana Vujic,Zorica Raskovic +6 more
TL;DR: Persistent watery diarrhoea with a high concentration of chloride in stool is the key finding in the differentiation of congenital chloride diarrhoeA from Bartter syndrome.
Journal ArticleDOI
A Turkish case of congenital chloride diarrhea with SLC26A3 gene (c.2025_2026insATC) mutation: diagnostic pitfalls.
TL;DR: This is a report of a Turkish female infant who was falsely diagnosed with Bartter syndrome when she was two months old and diagnosed with congenital chloride diarrhea based on high fecal Cl- level and SLC26A3 gene c.2025_2026insATC mutation at the age of eight months.
Journal ArticleDOI
Time Indices of Emergency Medical Services
TL;DR: Considering the increasing trend of traumatic events, especially in active groups of society (age groups of less than 45), equipping and updating ambulances and providing the EMS personnel with better training can help the injured people in reducing aftermath consequences.
Journal Article
Police response time to road crashes in south-east of Iran.
Mahdi Mohammadi,Alexandra Martiniuk,Alireza Ansari-Moghaddam,Mahdieh Rad,Fariborz Rashedi,Ardavan Ghjasemi,Hossein Ahangari +6 more
TL;DR: Police arrival at the crash scene was beyond the average response time by Emergency Medical Services in Iran, and it is vital to provide quicker ways of informing the police and to have more police stations along the highways.
Journal ArticleDOI
Surgical consequences in infants with delayed diagnosis of congenital chloride diarrhea.
TL;DR: Despite the usual typical presentation, congenital chloride diarrhea poses multiple diagnostic challenges and educating neonatologists, general pediatricians, and pediatric surgeons regarding this diagnostic entity is essential.
References
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Journal ArticleDOI
Congenital chloride diarrhea. A study in Arab children.
TL;DR: The perinatal characteristics of maternal polyhydramnios, prematurity, abdominal distention, and diarrhea were seen in 100% and hyperbilirubinemia in 90% of patients, and eight of the nine patients treated with continuous oral electrolyte solution demonstrated "catch-up" physical growth.
Journal ArticleDOI
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea.
Pia Höglund,Markus J. Sormaala,Siru Haila,Jerzy Socha,Usha Rajaram,W. Scheurlen,Maarten Sinaasappel,Hugo R. de Jonge,Christer Holmberg,Hideto Yoshikawa,Juha Kere,Juha Kere +11 more
TL;DR: Seven novel mutations including two missense mutations, two splicing defects, one nonsense mutation, one insertion/deletion mutation, and an intragenic deletion of SLC26A3 exons 7 and 8 were found, the first report of rearrangement mutations in SLC 26A3.
Journal ArticleDOI
Pseudo-Bartter's syndrome due to furosemide abuse: report of a case and an analytical review of Japanese literature.
TL;DR: A 30 year-old female patient who developed so-called pseudo-Bartter's syndrome as the result of surreptitious self-administration of furosemide for about six years is diagnosed and calcification of bilateral renal medulla was demonstrated.
Journal Article
Renal abnormalities in congenital chloride diarrhea.
Nadia M. Al-Hamad,Amal Al-Eisa +1 more
TL;DR: 3 patients with CLD associated with various renal abnormalities including chronic renal failure secondary to renal hypoplasia, nephrocalcinosis and congenital nephrotic syndrome are reported.
Journal ArticleDOI
Prenatal presentation of congenital chloride diarrhea: clinical report and review of the literature.
TL;DR: A case of congenital chloride diarrhea was diagnosed after delivery in a patient whose antenatal course was notable for massively dilated small and large bowel and persistent, severe hydramnios refractory to therapy.
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