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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.

AbstractObjective: 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.

Topics: Congenital chloride diarrhea (62%), Hyperuricosuria (53%), Population (51%), Hypouricemia (50%), Failure to thrive (50%)

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Citations
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Journal ArticleDOI
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.
Abstract: Introduction. Pseudo-Bartter syndrome encompasses a heterogenous group of disorders similar to Bartter syndrome. We are presenting an infant with pseudo-Bartter syndrome caused by congenital chloride diarrhoea. Case Outline. A male newborn born in the 37th gestational week (GW) to young healthy and non-consanguineous parents. In the 35th GW a polyhydramnios with bowel dilatation was verified by ultrasonography. After birth he manifested several episodes of hyponatremic dehydration with hypochloraemia, hypokalaemia and metabolic alkalosis, so as Bartter syndrome was suspected treatment with indomethacin, spironolactone and additional intake of NaCl was initiated. However, this therapy gave no results, so that at age six months he was rehospitalized under the features of persistent watery diarrhoea, vomiting, dehydration and acute renal failure (serum creatinine 123 μmol/L). The laboratory results showed hyponatraemia (123 mmol/L), hypokalaemia (3.1 mmol/L), severe hypochloraemia (43 mmol/L), alcalosis (blood pH 7.64, bicarbonate 50.6 mmol/L), high plasma renin (20.6 ng/ml) and aldosterone (232.9 ng/ml), but a low urinary chloride concentration (2.1 mmol/L). Based on these findings, as well as the stool chloride concentration of 110 mmol/L, the patient was diagnosed congenital chloride diarrhoea. In further course, the patient was treated by intensive fluid, sodium and potassium supplementation which resulted in the normalization of serum electrolytes, renal function, as well as his mental and physical development during 10 months of follow-up. Conclusion. 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. The treatment of congenital chloride diarrhoea consists primarily of adequate water and electrolytes replacement.

7 citations


Cites background from "Prehospital emergency service for i..."

  • ...Cyclic vomiting, congenital chloride diarrhoea (CCD), pyloric stenosis, disorders with primary excessive mineralocorticoid production and Guliner syndrome (family hypokalaemic alkalosis with primary tubulopathy) can cause dehydration, failure to thrive, hypokalaemia, hypochloraemia and metabolic alkalosis [2, 4]....

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  • ...CCD is an uncommon autosomal recessive hereditary disorder characterized by severe watery diarrhoea and metabolic alkalosis [16]....

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  • ...The similar clinical hallmarks and biochemical profile are indicated in the newborns and children suffering from disorders, such as cystic fibrosis, congenital chloride diarrhoea, pyloric stenosis or neonates on prostaglandin infusion [2, 3]....

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  • ...We have come across the data about polyhydramnios, premature delivery, failure to thrive, dehydration and hypokalaemic, hypochloraemic metabolic alkalosis, with excessive chloride loss by stools in the infant suffering from CCD [3, 4, 16]....

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  • ...The basic defect in CCD is the impairment of Cl-/ HCO3- exchange in an otherwise normal distal ileum and colon....

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Journal ArticleDOI
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.
Abstract: Congenital chloride diarrhea is a rare autosomal recessively inherited disorder characterized by impairment of Cl-/HCO3- exchange in an otherwise normal distal ileum and colon. Infrequency of congenital chloride diarrhea makes diagnostics difficult. The typical presentation is watery Cl- rich diarrhea, hypochloremia, hypokalemia, metabolic alkalosis and failure to thrive. This is a report of a Turkish female infant who was falsely diagnosed with Bartter syndrome when she was two months old. Ibuprofen was commenced at that time. However, severe watery diarrhea, dehydration, failure to thrive, abdominal distention, and electrolyte abnormalities persisted. She was diagnosed with congenital chloride diarrhea based on high fecal Cl- level and SLC26A3 gene c.2025_2026insATC mutation at the age of eight months. Oral NaCl and KCl supplementation was started. Our patient is now 26 months old. Her growth and development are normal. Early diagnosis and treatment are essential for normal growth and development and prevention of other severe complications of congenital chloride diarrhea.

6 citations


Journal Article
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.
Abstract: OBJECTIVES: To investigate post-crash time management by police. METHODS: The retrospective study comprised data related to all road traffic crashes from March 2009 to March 2010 in Sistan and Baluchistan province of Iran. Data was retrieved from the standard national form designed for road traffic crashes completed by police officers present at the scene. SPSS 15 was used for statistical analysis. RESULTS: The median time for police to be informed in the total 2442 accidents was 10 minutes and the police response time was 15-20 minutes for non-fatal cases, while the corresponding duration for fatal cases was 15 minutes and 30 minutes (p DISCUSSION: Police arrival at the crash scene was beyond the average response time by Emergency Medical Services in Iran. It is vital to provide quicker ways of informing the police and to have more police stations along the highways. Language: en

3 citations


Journal ArticleDOI
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.
Abstract: Background: Almost 25% of the world population suffer from early death due to preventable events. Trauma and sudden cardiac death are known as common causes of death. The arrival time to help the patient is known as a very important factor in enhancing survival and reducing side effects. Objectives: The aim of the present study was to identify the factors relating to the efficacy of prehospital emergency service (timerelated performance). In addition, it was intended to describe time indices of prehospital services among patients who had internal medical and trauma related problems. Methods: In the present cross-sectional study, all the calls to the emergency medical service (EMS) were monitored. The reasons of these calls were internal medical problems and trauma (March 2009 to March 2013). The frequency of calls were derived from the information bank of EMS in Isfahan, Iran. Demographic features, type of events, time indices of EMS and the outcomes of registered patients were collected and the data were analyzed using descriptive and analytical statistics. Descriptive statistics included frequency, percentage, mean, median, and standard deviation and inferential statistics included t-test, ANOVA, multiple regression and chi-square test. Results: From a total of 299956 cases who had sought help, 61.9% were men. Also, 48.5% of the cases had internal medical and 51.5% had traumatic injuries. In 61.5% of the cases, the injured persons were transferred to the hospital and 3.2% of the cases resulted in death. The men had a morality rate of 1.6 more than women (P < 0.001). Response times were significantly higher than the standard of 8 minutes (P < 0.001). In 50.6% of the cases, the mean response time was less than 8 minutes. Conclusions: 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. On the other hand, increasing neurologic problems in these age groups is an alarm for health managers and health workers, so that they can improve public health through revising health guidelines. Increase in the response time in prehospital emergency missions is also an alarm for the managers who must revise the methods of conducting emergency missions

3 citations


Journal ArticleDOI
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.
Abstract: Despite the usual typical presentation, congenital chloride diarrhea (CCD) poses multiple diagnostic challenges. It has an incidence of 1/5000 in Saudi Arabia. CCD can mimic intestinal obstruction and result in avoidable surgical interventions. Contributing factors are abdominal distension and the watery (urine-like) diarrhea that is often interpreted as delayed passage of meconium. Surgical interventions would unnecessarily increase the morbidity. Therefore, a high index of suspicion and educating neonatologists, general pediatricians, and pediatric surgeons regarding this diagnostic entity is essential. Here we describe five such cases.

2 citations


Cites background from "Prehospital emergency service for i..."

  • ...Chronic dehydration and renal impairment is a known complication of CCD (7, 8)....

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  • ...Nevertheless, they may indicate fetal IO requiring rectal biopsy (1,2,8)....

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References
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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.

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Journal ArticleDOI
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.

76 citations


Journal ArticleDOI
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.
Abstract: Congenital chloride diarrhea is an inherited defect of active intestinal Cl − transport which results in a large wastage of electrolytes and water The effects of this disease and of replacement therapy on renal histology, function, growth, and the renin-angiotensin-aldosterone system were studied in 18 patients When the patients were given KCl supplement, histologic findings included juxtaglomerular hyperplasia, hyalinized glomeruli, calcifications, and arteriolar changes Renal function and growth were reduced, and the hormonal activities were high These abnormalities were evidently due to chronic dehydration The dehydration could be corrected by increasing the dose of KCl, but only the addition of NaCl corrected the hyperaldosteronism Adequate replacement therapy prevented the renal involvement

50 citations