Journal Article•
Prehospital emergency service for internal medicine problems in pediatrics; causes, time indices and outcomes
01 Jan 2007-Iranian Journal of Pediatrics (IRANIAN JOURNAL OF PEDIATRICS)-Vol. 17, Iss: 2, pp 179-185
TL;DR: 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.
Citations
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01 Jan 2013
TL;DR: Six major themes emerging for pre-hospital care included first contact care, assessing patients' needs, sense of security, evidence-based, coordination and vehicle, which can lead to offering comprehensive medical services based on patient needs and developing the nursing profession.
Abstract: Pre-hospital care as a concept is subjective, multidimensional, ambiguous and associated with the health care system. Throughout the world the focus has been on the importance of burn victims, and pre-hospital emergency care is still an abstract concept. The purpose of the present study was to analyze the concept of care in the context of pre-hospital emergency. The study employed the hybrid model to define the concept of pre-hospital care through three phases including theoretical phase, field work stage, and overall analysis. According to the results, six major themes emerging for pre-hospital care included first contact care, assessing patients' needs, sense of security, evidence-based, coordination and vehicle. The results of this study will help clarify the concept of pre-hospital emergency care. This clarification can lead to offering comprehensive medical services based on patient needs and developing the nursing profession. Also, identification of facilitators or barriers and the concept of pre-hospital emergency care will help the nursing administrators and educators to be able to design managerial and educational activities based on scientific findings to execute the necessary conditions for learning and implementing high quality prehospital emergency care in nursing.
1 citations
Journal Article•
TL;DR: The case of one-year old child with pathognomonic characteristics of this disease including prenatal history of polyhydramnios, watery diarrheas since birth, low weight gain, metabolic alkalosis and dehydration is reported.
Abstract: Congenital chloride diarrhea is a rare autosomal recessive disorder caused by a defective exchange of chloride and bicarbonate in the ileum and the colon. This article reported the case of one-year old child with pathognomonic characteristics of this disease including prenatal history of polyhydramnios, watery diarrheas since birth, low weight gain, metabolic alkalosis and dehydration. The diagnosis was confirmed on the basis of the high contents of chloride in stools. He is the second case of this disease reported in the Cuban literature.
References
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Book•
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01 Apr 2006
TL;DR: Advances in understanding and treatment of cystic fibrosis are summarized, focusing on pulmonary disease, which accounts for most morbidity and deaths.
Abstract: Cystic fibrosis is the most common autosomal recessive disorder in white people, with a frequency of about 1 in 2500 livebirths. Discovery of the mutated gene encoding a defective chloride channel in epithelial cells--named cystic fibrosis transmembrane conductance regulator (CFTR)--has improved our understanding of the disorder's pathophysiology and has aided diagnosis, but has shown the disease's complexity. Gene replacement therapy is still far from being used in patients with cystic fibrosis, mostly because of difficulties of targeting the appropriate cells. Life expectancy of patients with the disorder has been greatly increased over past decades because of better notions of symptomatic treatment strategies. Here, we summarise advances in understanding and treatment of cystic fibrosis, focusing on pulmonary disease, which accounts for most morbidity and deaths.
4,585 citations
Book•
15 Jan 1995
TL;DR: Pediatric clinical gastroenterology, Pediatric clinical Gastroenterology , کتابخانه دیجیتال جندی شاپور اهواز
Abstract: Pediatric clinical gastroenterology , Pediatric clinical gastroenterology , کتابخانه دیجیتال جندی شاپور اهواز
249 citations
TL;DR: A summary of all published and two novel SLC26A3 mutations and polymorphisms are presented, and they are reviewed in the context of their functional consequences and clinical implications.
Abstract: Congenital chloride diarrhea (CLD) is an autosomal recessive disorder of intestinal electrolyte absorption. It is characterized by persistent secretory diarrhea resulting in polyhydramnios and prematurity prenatally, and dehydration, hypoelectrolytemia, hyperbilirubinemia, abdominal distention, and failure to thrive immediately after birth. CLD is caused by mutations in the solute carrier family 26, member 3 gene (SLC26A3, alias CLD or DRA), which encodes a Na+-independent Cl−/HCO3− (or OH−) exchanger. SLC26A3 is a member of the SLC26 sulfate permease/anion transporter family and it is expressed mainly in the apical brush border of intestinal epithelium. The only extraintestinal tissues showing SLC26A3 expression are eccrine sweat glands and seminal vesicles. A wide variety of different mutations in the SLC26A3 gene have been associated with CLD with no apparent evidence of phenotype–genotype correlation. The clinical course of CLD, however, is variable and may rather depend on environmental factors and compensatory mechanisms than mutations. In this report, we present a summary of all published and two novel SLC26A3 mutations and polymorphisms, and review them in the context of their functional consequences and clinical implications. Hum Mutat 20:425–438, 2002. © 2002 Wiley-Liss, Inc.
140 citations
TL;DR: It is confirmed that the same locus is mutated in all cases of CLD studied so far, and in Poland, a relatively common founder mutation is likely to highlight a set of rare mutations that would very rarely produce homozygosity alone, suggesting that mutations in the CLD locus are not rare events.
Abstract: Congenital chloride diarrhea (CLD) is an inherited intestinal disorder caused by mutations in the down-regulated in adenoma gene. In Finland, the disease is prevalent because of a founder effect, and all but one of the CLD-associated chromosomes carry the same mutation, V317del. In Poland, another area with a high incidence of CLD, as many as seven different mutations have been detected so far. A third known cluster of CLD, around the Persian Gulf, has not been genetically studied. We studied the allelic diversity of CLD in Poland, in Saudi Arabia and Kuwait, and in three isolated families from North America and Hong Kong. Altogether, eight novel mutations were identified, making a total of 19 known CLD gene mutations. The Polish major mutation I675-676ins was found in 47% of the Polish CLD-associated chromosomes. Haplotype analysis and clustering of the I675-676ins mutation supported a founder effect and common ancestral origin. As in Finland, a major founder effect was observed in Arab patients: 94% of the CLD-associated chromosomes carried a nonsense mutation, G187X, which occurred in either a conserved ancestral haplotype or its derivative. Our data confirm that the same locus is mutated in all cases of CLD studied so far. In Poland, a relatively common founder mutation is likely to highlight a set of rare mutations that would very rarely produce homozygosity alone. This suggests that mutations in the CLD locus are not rare events. Although the disease is thought to be rare, undiagnosed patients may not be uncommon.
83 citations
TL;DR: Renal function and growth were reduced, and the hormonal activities were high, evidently due to chronic dehydration, and only the addition of NaCl corrected the hyperaldosteronism.
50 citations