Edit concept Question Editor Create issue ticket

Congenital Chloride Diarrhea

IED


Presentation

  • However, other rare and challenging etiologies such as congenital chloride diarrhea (CCD) should be included in differential diagnosis of such presentation.[ncbi.nlm.nih.gov]
  • The present retrospective study from Saudi Arabia, over 7.5 years, presents the clinical, biochemical, and treatment details in 10 children with CCD.[ncbi.nlm.nih.gov]
  • The clinical presentation is a life-threatening watery diarrhea with a high chloride content. Recently, the congenital chloride diarrhea gene (CLD) was assigned to chromosome 7 by linkage in eight Finnish families.[ncbi.nlm.nih.gov]
  • OBJECTIVES: Autosomal recessive, congenital chloride diarrhea (CLD) is a form of persistent secretory diarrhea, presenting with polyhydramnios and intractable diarrhea from birth.[ncbi.nlm.nih.gov]
  • In this report, a 7.5-year-old boy with CCD diagnosed by high fecal chloride concentration is presented. Until now CCD had not been reported from Turkey, although consanguineous marriages are common.[ncbi.nlm.nih.gov]
Green Stools
  • After delivery by cesarean section for hydramnios, she excreted profuse watery yellow green stools with marked abdominal distension. At 4 months of age, hypochloremia, hyponatremia and a high concentration of chloride in the stool were identified.[ncbi.nlm.nih.gov]
Chronic Watery Diarrhea
  • It is characterized by chronic, watery diarrhea with a high fecal chloride concentration, hyponatremia, hypokalemia, and hypochloremic metabolic alkalosis.[ncbi.nlm.nih.gov]
Food Intolerance
  • intolerance Formula intolerance Gordon's syndrome Impaired intestinal fat absorption Impaired intestinal protein absorption Infant formula intolerance Intestinal malabsorption of carbohydrate Intestinal malabsorption of fat Intestinal malabsorption of[icd9data.com]
Hydrops Fetalis
  • Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care[books.google.com]
Normal Stature
  • As the patient has normal stature, it is likely that the paternal chromosome 7 lacks the suggested maternal imprinting effect on growth. Paternal isodisomy for human chromosome 7 may have no phenotypic effect on growth.[ncbi.nlm.nih.gov]
  • Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet 36 : 621–624, 1999. ISI Google Scholar 111 Taylor CJ, Aswani N. The pancreas in cystic fibrosis.[doi.org]
Onset in Infancy
  • Homepage Rare diseases Search Search for a rare disease Congenital chloride diarrhea ORPHA:53689 Synonym(s): - Prevalence: - Inheritance: Autosomal recessive Age of onset: Neonatal, Infancy ICD-10: P78.3 OMIM: 214700 UMLS: C0267662 MeSH: C536210 GARD:[orpha.net]
  • Homepage Rare diseases Search Search for a rare disease Congenital chloride diarrhea ORPHA:53689 Synonym(s): - Prevalence: - Inheritance: Autosomal recessive Age of onset: Neonatal , Infancy ICD-10: P78.3 OMIM: 214700 UMLS: C0267662 MeSH: C536210 GARD[orpha.net]

Workup

  • Initial laboratory workup showed hypochloraemia (plasma chlorine-90mmol/L), hypokalaemia (plasma potassium-3.1mmol/L), and hyponatraemia (sodium 131 mmol/L).[jpma.org.pk]
Nephrolithiasis
  • The main feature of the renal injury was nephrocalcinosis, without hypercalciuria or nephrolithiasis with small sized kidneys and commensurately reduced glomerular filtration rates.[ncbi.nlm.nih.gov]
  • Manoocher Soleimani, The role of SLC26A6‐mediated chloride/oxalate exchange in causing susceptibility to nephrolithiasis, The Journal of Physiology, 586, 5, (1205-1206), (2008).[doi.org]
  • Romero, In vivo Drosophilia genetic model for calcium oxalate nephrolithiasis, American Journal of Physiology-Renal Physiology, 303, 11, (F1555), (2012).[doi.org]

Treatment

  • During indomethacin treatment, no clinical improvement could be achieved whereas hyperreninemia and hyperaldosteronism improved.[ncbi.nlm.nih.gov]
  • The present retrospective study from Saudi Arabia, over 7.5 years, presents the clinical, biochemical, and treatment details in 10 children with CCD.[ncbi.nlm.nih.gov]
  • Available treatments address the symptoms of CCD, not the underlying defect. Early diagnosis and aggressive salt replacement therapy result in normal growth and development, and generally good outcomes.[en.wikipedia.org]
  • We report the successful treatment of a Japanese neonate with CCD caused by SLC26A3 mutation.[ncbi.nlm.nih.gov]
  • Therefore, a correct diagnosis is of upmost importance before treatment initiation. Although some methods for antenatal differential diagnosis were reported, antenatal diagnosis of CCD remains difficult.[ncbi.nlm.nih.gov]

Prognosis

  • If the condition is diagnosed before birth, the prognosis of the newborn will improve.[ncbi.nlm.nih.gov]
  • When early diagnosed and adequately treated, the long-term prognosis of CLD is favorable.[ncbi.nlm.nih.gov]
  • Salt substitution therapy started early in life prevents early complications, allows normal growth and development, and favors good long-term prognosis.[ncbi.nlm.nih.gov]
  • […] tests may be relevant to Congenital chloride diarrhea: * Colon & Rectal Cancer: Home Testing o Home Colorectal Cancer Tests o Home Fecal Occult Bleeding Tests * Cold & Flu: Home Testing: o Home Fever Tests o Home Ear Infection Tests o Home Flu Tests Prognosis[checkorphan.org]

Etiology

  • However, other rare and challenging etiologies such as congenital chloride diarrhea (CCD) should be included in differential diagnosis of such presentation.[ncbi.nlm.nih.gov]
  • Al-Faris, MBBS, MSc, MRCGP(Lond), Mona Al-Rajhi, MBBS, DIP PHC, and Mohammed Al-Mahdy Balla Al-Nour, MBBS, MCM, MPH pp. 525–528 Neonatal Jaundice in Qatif: The Role of Glucose-6-Phosphate Dehydrogenase Deficiency in the Etiology Among Outpatient Cases[annsaudimed.net]
  • However, the overall prognosis depends upon the underlying etiology.[clinicaladvisor.com]

Epidemiology

  • Sections Congenital Adrenal Hyperplasia in a Referral Hospital in Saudi Arabia: Epidemiology, Pattern and Clinical Presentation Nasir A. M. Al-Jurayyan, FAAP, FRCPC, Abdullah S. Al-Herbish, FAAP, FRCPC, Abdullah M. Abo Bakr, MsEd, FRCPC, Abdullah A.[annsaudimed.net]
  • Relevant External Links for SLC26A3 Genetic Association Database (GAD) SLC26A3 Human Genome Epidemiology (HuGE) Navigator SLC26A3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SLC26A3 No data available for Genatlas for SLC26A3 Gene Identification[genecards.org]
  • Epidemiology Anderson, LE, Henrich, WL. “Alkalemia-associated morbidity and mortality in medical and surgical patients”. South Med J. vol. 80. 1987. pp. 729-33.[clinicaladvisor.com]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiologic mechanism is a dysfunctional chloride-bicarbonate exchange in the brush border of the ileum. Antenatal presentation, prenatal diagnosis, and a review of the current literature are discussed.[doi.org]
  • Pathophysiology CCD causes persistent secretory diarrhea. In a fetus, it leads to polyhydramnios and premature birth.[wikidoc.org]
  • Dudeja, Pathophysiology of IBD associated diarrhea, Tissue Barriers, 10.1080/21688370.2018.1463897, 6, 2, (e1463897), (2018).[doi.org]

Prevention

  • Adequate replacement therapy prevented the renal involvement.[ncbi.nlm.nih.gov]
  • Salt substitution therapy started early in life prevents early complications, allows normal growth and development, and favors good long-term prognosis.[ncbi.nlm.nih.gov]
  • Early diagnosis and treatment are essential for normal growth and development and prevention of other severe complications of congenital chloride diarrhea.[ncbi.nlm.nih.gov]
  • It is easily administered, useful in preventing severe dehydration episodes, and may be a promising therapeutic approach for a long-term treatment in this rare and severe condition.[ncbi.nlm.nih.gov]
  • Special attention is given to the prevention and treatment of these diseases found in developing countries as well as the latest findings about new antimicrobial agents, gram-negative infections and their management, and recommendations for immunization[books.google.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!