Congenital Chloride-Losing Diarrhea in Saudi Children

Abdullah, Azian Azamimi; Katugampola, Sujatha M.; Abdullah, Mohamed Ahmed; Adam, Khalifa Abdel Rahim; Al-Jishi, Nuhad

doi:10.5144/0256-4947.1990.389

Cited by 7 publications

(7 citation statements)

References 14 publications

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“…More than one-third of the reported cases have been from Finland but the disease has also been identified in several other European countries, 4 North and South America and the Far East 5,6 and more recently, from the Arabian Peninsula. [7][8][9][10] We report our experience in 10 patients with CCD to familiarize clinicians with the clinical and laboratory findings of this disease and to stimulate awareness of the gene prevalence in the region where there is a high incidence of consanguineous marriages. Early recognition of CCD allows for appropriate therapy and prevention of the complications that may result from chronic extracellular fluid volume depletion and metabolic alkalosis.…”

mentioning

confidence: 99%

Congenital Chloride Diarrhea: A Single Center Experience with Ten Patients

Al-Abbad

Nazer

Sanjad

et al. 1995

Annals of Saudi Medicine

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confidence: 99%

Congenital Chloride Diarrhea: A Single Center Experience with Ten Patients

Al-Abbad

Nazer

Sanjad

et al. 1995

Annals of Saudi Medicine

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“…Contrary to Barter's, urine K is low with high Cl and its ease of correction of hypo K. Early diagnosis and treatment, with adequate salt and K, are essential for normal growth and development and prevention of other severe complications. The optimal dosage of electrolytes are Na 6 mmol/kg/day, K 6.5 mmol/kg/day, and Cl ranging from 12.5 mmol/kg/day, mmol/kg/day in infants, and less in older patients [ 5 , 7 ]. The long-term disease complications have been attributed to chronic hypovolemia-induced nephrocalcinosis [ 10 ].…”

Section: Discussionmentioning

confidence: 99%

“…Most of the cases have been reported from Finland, and their calculated prevalence was 1 in 43,000 newborns [ 4 ]. In Arab, only few cases have been reported in Saudi Arabia and Kuwait [ 5 , 6 ]. The overall long-term prognosis is favorable with optimal life-long salt and K substitution though complications such as renal disease, hyperuricemia, inguinal hernias, spermatoceles, and decreased fertility reported in incompliant patients [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

“Recurrent Papillary Necrosis and Nephrocalcinosis Induced by Nonsteroidal Anti-Inflammatory Drugs for Gouty Arthritis Associated with Congenital Chloride-Losing Diarrhea: A Major Risk for Kidney Loss”

El-Reshaid

Al-Bader

Sallam

2021

Case Reports in Nephrology

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Congenital chloride-losing diarrhea (CCLD) is a rare genetic disorder due to autosomal recessive mutation in the SLC26A3 gene on chromosome 7. It is characterized with chronic watery diarrhea with high fecal chloride (Cl: >90 mmol/L), low potassium (K), and metabolic alkalosis with low urinary Cl and K. The overall long-term prognosis is favorable with optimal life-long salt and K supplementation. In this case report, we describe a man with progressive renal failure and small kidneys that showed nephrocalcinosis and papillary necrosis. His disease was diagnosed since birth and was confirmed by our tests. He was incompliant with therapy and had developed gout. The latter complication of his disease has led to excessive NSAID use over the past years. Reinstitution of diet, drug therapy, and allopurinol had stabilized his renal disease for 1 year of follow-up. In conclusion, excessive analgesic use is a risk factor for renal failure in CCLD.

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“…Some reports were released from KSA [22,25,26] and Kuwait. [27,28] The largest series from KSA was reported from our center and included 27 patients [25] with a total of around 67 reported Saudi patients.…”

Section: Discussionmentioning

confidence: 99%

“…[27,28] The largest series from KSA was reported from our center and included 27 patients [25] with a total of around 67 reported Saudi patients. [25,26,30–32]…”

Section: Discussionmentioning

confidence: 99%

Congenital chloride losing diarrhea

Kamal

Khan²,

El-Shabrawi

et al. 2019

Medicine

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Congenital chloride losing diarrhea (CCLD) is a rare type of chronic watery diarrhea due to mutations in SLC26A3 gene leading to defective chloride–bicarbonate exchanges with the resultant loss of chloride and retention of bicarbonate. We aim to define pediatric Saudi CCLD patients’ characteristics to achieve prompt diagnosis, management, follow up with good quality of life, and prevention of complications in these patients. We carried retrospective data review of demographic, clinical, laboratory, radiographic, and outcome of all pediatric patients fulfilling the criteria of CCLD over 10 years from 2004 to 2014 from a single center in Taif region, Saudi Arabia. Forty-nine patients fulfilled the criteria of CCLD from 21 families with more than one affected patient in the same family in 90% of them and positive consanguinity in 91% of the cohort. Most patients were born preterm with intrauterine growth restriction and usually neonatal intensive care unit (NICU) admissions with prematurity and its complications. Thirteen patients were discharged without diagnosis of CCLD and 3 were misdiagnosed as intestinal obstruction with unnecessary surgical intervention. Many complications do existed with renal complications being the most common with three patients received renal transplantation. Prematurity with abdominal distension and stool like urine were the commonest presentation of CCLD in Saudi children. Positive consanguinity and more than one affected sibling are present in most of our cohort. High index of suspicion by clinicians is a cornerstone for early diagnosis with subsequent favorable outcome. A multicenter national incidence study of CCLD in KSA and its genetic attributes is recommended. Premarital screening should be implemented specially for consanguineous marriage.

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Congenital Chloride-Losing Diarrhea in Saudi Children

Cited by 7 publications

References 14 publications

Congenital Chloride Diarrhea: A Single Center Experience with Ten Patients

Congenital Chloride Diarrhea: A Single Center Experience with Ten Patients

“Recurrent Papillary Necrosis and Nephrocalcinosis Induced by Nonsteroidal Anti-Inflammatory Drugs for Gouty Arthritis Associated with Congenital Chloride-Losing Diarrhea: A Major Risk for Kidney Loss”

Congenital chloride losing diarrhea

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