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]

• Inguinal Hernia

  Complications documented were end-stage renal disease (n 1) and hyperuricemia (n 4), novel findings possibly associated with CLD being male subfertility (n 3), spermatoceles (n 3), intestinal inflammation (n 2), inguinal hernias (n 4) and increased concentrations [ncbi.nlm.nih.gov]

  Complications documented were end-stage renal disease ( n 1) and hyperuricemia ( n 4), novel findings possibly associated with CLD being male subfertility ( n 3), spermatoceles ( n 3), intestinal inflammation ( n 2), inguinal hernias ( n 4) and increased [doi.org]

  hernias, spermatoceles and male subfertility are possible. [2,8] Hence we conclude that careful evaluation of the differential diagnosis on ultrasound can help point towards such life threatening rare neonatal disorders. [jpgo.org]

• Enuresis

  Enuresis, slight soiling and hospitalizations for gastroenteritis were common, especially in childhood, but 92% of the patients found their health excellent or good. [ncbi.nlm.nih.gov]

• Poor Growth

  History of polyhydramnios, watery diarrhea, failure to thrive, poor growth, soiling, metabolic alkalosis and hypokalemia/hypochloremia should be an alarming set of findings for the diagnosis. [ncbi.nlm.nih.gov]

• Hypertrophic Pyloric Stenosis

  “Rapid correction of metabolic alkalosis in hypertrophic pyloric stenosis with intravenous cimetidine: preliminary results”. Pediatr Surg Int 2009. vol. 25. Mar. pp. 269-71. [clinicaladvisor.com]

  Chun Woo Lim, Heung Keun Park, Jung-Sook Yeom, Taejin Park, Ji Sook Park, Eun-Sil Park, Ji-Hyun Seo, Jae Young Lim, Chan-Hoo Park, Hyang-Ok Woo and Hee-Shang Youn, A Natural Course of an Infantile Hypertrophic Pyloric Stenosis without Adequate Surgical [doi.org]

• 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]

• 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]

• 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]

Initial laboratory workup showed hypochloraemia (plasma chlorine-90mmol/L), hypokalaemia (plasma potassium-3.1mmol/L), and hyponatraemia (sodium 131 mmol/L). [jpma.org.pk]

Diagnosis Laboratory studies that may be helpful include the following: Amniocentesis Blood workup - Serum electrolyte levels; pH; serum bicarbonate, uric acid, hemoglobin, renin, and aldosterone levels Urine and stool studies - Urine chloride, sodium [emedicine.medscape.com]

• 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]

  According to past reports, the main feature of the renal injury is known as nephrocalcinosis, which is caused by urine supersaturation and crystal precipitation, with no hypercalciuria or nephrolithiasis [ 7 ]. [chikd.org]

• Helicobacter Pylori

  Impaired mucus-bicarbonate barrier in Helicobacter pylori-infected mice. Am J Physiol Gastrointest Liver Physiol 291 : G396–G403, 2006. [doi.org]

During indomethacin treatment, no clinical improvement could be achieved whereas hyperreninemia and hyperaldosteronism improved. [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]

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. [doi.org]

[…] 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]

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]

Etiology Hypochloremia is defined as a serum chloride level of less than 95 mEq/L. Hypochloremia results from either low chloride intake or excessive chloride wasting. Low chloride intake is very uncommon. [emedicine.medscape.com]

However, the overall prognosis depends upon the underlying etiology. [clinicaladvisor.com]

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]

Epidemiology The frequency of hypochloremic alkalosis is unknown, both in the United States and worldwide. However, there is some reason to think that this condition may be more common worldwide than was previously accepted. [emedicine.medscape.com]

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. [ncbi.nlm.nih.gov]

Pathophysiology CCD causes persistent secretory diarrhea. In a fetus, it leads to polyhydramnios and premature birth. [wikidoc.org]

Adequate replacement therapy prevented the renal involvement. [ncbi.nlm.nih.gov]