Background: Congenital chloride-losing diarrhea is a medical emergency that become a mostly pediatric problem in many countries including Saudi Arabia. It is requiring early diagnostics and treatment to prevent severe dehydration and infant mortality. 
Aim of the review: To summarize data on congenital chloride diarrhea including: incidence, pathophysiology and management. 
Methods: Data are based on MEDLINE search for chloride losing diarrhea in addition to clinical experience in treatment of these cases. 
Results: Life-long salt substitution with NaCl and KCl stabilizes fluid, electrolyte and acid-base balance. When early diagnosed and properly treated, the long-term outcome is favorable. Conclusions: This review summarizes data on congenital chloride diarrhea and provides guide lines of treatment.

https://www.longdom.org/open-access/congenital-chloride-losing-diarrhea-2161-0665.1000193.pdf

Congenital Chloride Losing Diarrhea

Gout is a metabolic disorder that results in hyperuricemia and the deposition of positively birefringent monosodium urate crystals in various parts of the body. Intoxication of sodium bicarbonate (SBC) for 35 days in Korean native broilers was investigated. Sixty birds, aged 2 weeks, divided into 5 groups were exposed to excess SBC: 2 g/L (group A), 7.5 g/L (group B), 20 g/L (group C), 40 g/L (group D). Toxicopathological examination of all exposed birds revealed the manifestation of visceral and articular gout in group C, while birds of group D showed acute kidney damage with manifestation of excessive visceral gout. Interestingly, few birds in group D also showed signs of rare condition of acute articular gout. Dose-dependent increments in erythrocytic count, hematocrit values, and hemoglobin levels of the exposed birds were observed. Hypernatremia, hyperuricemia, hypokalemia, and hypochloremia were common findings among exposed birds. Microscopic examination of birds that manifested visceral gout revealed significant urate deposit, tubular necrosis, and tophi formation in renal interstitium. These findings provide a pathophysiological link that SBC intoxication may support hyperuricemia, which is an independent risk factor for gout and other renal dysfunctions. Further study is required to delineate the effect of lowering uric acid on progression of gout and other renal diseases.

Gout induced by intoxication of sodium bicarbonate in Korean native broilers.

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.

/pdf/prehospital-emergency-service-for-internal-medicine-problems-3qvbyqpz5v.pdf

Prehospital emergency service for internal medicine problems in pediatrics; causes, time indices and outcomes

Chloridove iony sa podieľaju na regulacii objemu buniek, sekrecii telesných tekutin a udržani acidobazickej rovnovahy. Hypo/hyperchloremia u novorodencov a dojciat je emergentna situacia vyžadujuca dokladnu diferencialnu diagnostiku na zistenie kauzalnej priciny stavu. K vzacnym pricinam poruchy vylucovania chloridových ionov patri kongenitalna chloridorea (CLD), ktora je charakterizovana torpidnymi objemnými hnackami, vysokou koncentraciou chloridov v stolici a metabolickou alkalozou. CLD je zriedkave autozomovo‑recesivne ochorenie zapricinene mutaciou SLC26A3 genu lokalizovaneho na chromozome 7q31, ktorý koduje transmembranový protein v intestinalnych bunkach. Genetický defekt sposobuje poruchu crevnej absorpcie chloridov a sekrecie bikarbonatov. Profuzne hnacky zapriciňuju významne straty vody a elektrolytov, co vedie k volumovej deplecii, hyperreninemii, hyperaldosteronizmu, renalnym stratam kalia a u niektorých aj k rozvoju chronickej nefropatie. Autori prezentuju vzacne kazuistiky 2 bratov s geneticky potvrdenou CLD. Obidve deti sa narodili s nižsou porodnou hmotnosťou a kratko po narodeni vyžadovali hospitalizaciu pre distendovane brusko a hnacky so zavažnou dehydrataciou a elektrolytovou dysbalanciou. V laboratornom obraze dominovala signifikantna hypochloremia (76 mmol/l resp. 78 mmol/l) a extremna metabolicka alkaloza (pH 7,63; HCO3 46 mmol/l resp. pH 7,73; HCO3 40 mmol/l). Vylucili sme renalne straty chloridov a cysticku fibrozu; vysetrenie koncentracie chloridov v stolici na nasom pracovisku nebolo dostupne. Po substitucnej liecbe sa biochemicke abnormality ciastocne upravili, vodnate stolice pretrvavaju ďalej. V ďalsom vývoji pacienti slabsie prospievali a pre epizody dehydratacie boli opakovane hospitalizovani na podanie parenteralnej liecby. Renalne funkcie su vo veku 6 resp. 2 roky primerane, ale starsi chlapec ma znamky pocinajucej nefrokalcinozy. Priamym sekvenovanim kodujucej oblasti genu SLC26A3 sa u obidvoch surodencov detegoval rovnaký genotyp - doteraz neopisaný variant c.629_63Ildel (p. Ile210del) a patogenny variant v gene SLC26A3 v heterozygotnom stave. Pri perzistujucich vodnatých hnackach, hypochloremii, hypokaliemii a metabolickej alkaloze treba myslieť na kongenitalnu chloridorheu. Diagnoza sa opiera o charakteristický klinický obraz vodnatých hnaciek od novorodeneckeho veku, dokaz vysokej koncentracie chloridov v stolici > 90 mmol/l a molekulovo‑geneticke vysetrenie. Pacienti s CLD vyžaduju pravidelne nefrologicke sledovanie pre riziko rozvoja chronickej nefropatie a funkcne poskodenie tubulov.

/pdf/the-first-cases-of-genetically-confirmed-congenital-diarrhea-88znlfefpm.pdf

Hsiang-Hung Shih

Papers

Congenital chloride diarrhea in a child.