Treatment of an infant with congenital sodium diarrhea by oral rehydration

Kidowaki, Takuro; Funaki, Hidenori; Mizuta, Ryuzo; Nishiki, Tetsuo; Takada, Hiroshi

doi:10.1111/j.1442-200x.1993.tb03005.x

Cited by 5 publications

(8 citation statements)

References 8 publications

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“…NHE3 IEC-KO mice had distended abdomens, fluid-filled intestinal loops and alkaline diarrhea. This is consistent with NHE3 −/− mice, which have alkaline diarrhea, increased intestinal weight and increased fluid content [8,31], but importantly NHE3 IEC-KO mice mimic the clinical features of CSD patients [32,33]. The more alkaline pH of the small intestinal and colon contents in NHE3 IEC-KO mice is consistent with reduced H + secretion and impaired buffering of secreted HCO 3 − .…”

Section: Discussionsupporting

confidence: 80%

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An inducible intestinal epithelial cell-specific NHE3 knockout mouse model mimicking congenital sodium diarrhea

et al. 2020

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The sodium–hydrogen exchanger isoform 3 (NHE3, SLC9A3) is abundantly expressed in the gastrointestinal tract and is proposed to play essential roles in Na+ and fluid absorption as well as acid–base homeostasis. Mutations in the SLC9A3 gene can cause congenital sodium diarrhea (CSD). However, understanding the precise role of intestinal NHE3 has been severely hampered due to the lack of a suitable animal model. To navigate this problem and better understand the role of intestinal NHE3, we generated a tamoxifen-inducible intestinal epithelial cell-specific NHE3 knockout mouse model (NHE3IEC-KO). Before tamoxifen administration, the phenotype and blood parameters of NHE3IEC-KO were unremarkable compared with control mice. After tamoxifen administration, NHE3IEC-KO mice have undetectable levels of NHE3 in the intestine. NHE3IEC-KO mice develop watery, alkaline diarrhea in combination with a swollen small intestine, cecum and colon. The persistent diarrhea results in higher fluid intake. After 3 weeks, NHE3IEC-KO mice show a ∼25% mortality rate. The contribution of intestinal NHE3 to acid–base and Na+ homeostasis under normal conditions becomes evident in NHE3IEC-KO mice that have metabolic acidosis, lower blood bicarbonate levels, hyponatremia and hyperkalemia associated with drastically elevated plasma aldosterone levels. These results demonstrate that intestinal NHE3 has a significant contribution to acid–base, Na+ and volume homeostasis, and lack of intestinal NHE3 has consequences on intestinal structural integrity. This mouse model mimics and explains the phenotype of individuals with CSD carrying SLC9A3 mutations.

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Section: Discussionsupporting

confidence: 80%

“…The drastic increase in plasma aldosterone levels in NHE3 IEC-KO mice can be explained by the volume contraction (activation of renin–angiotensin system) and the hyperkalemia. Hyperkalemia and hyperaldosteronism are common features of patients with CSD [ 14 , 33 , 49 ].…”

Section: Discussionmentioning

confidence: 99%

An inducible intestinal epithelial cell-specific NHE3 knockout mouse model mimicking congenital sodium diarrhea

et al. 2020

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“…It has been difficult to investigate the precise origin of CSD in a systematic manner due to its rarity [1,2,3,4,5,6,7]. Early recognition, prevention of dehydration, and sodium and bicarbonate (citrate) supplementation are the mainstays of therapy [4,5,6,7].…”

Section: Introductionmentioning

confidence: 99%

“…Early recognition, prevention of dehydration, and sodium and bicarbonate (citrate) supplementation are the mainstays of therapy [4,5,6,7]. Loperamide hydrochloride has been used to increase intestinal sodium absorption in a few cases with success [6].…”

Section: Introductionmentioning

confidence: 99%

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Congenital sodium diarrhea in a neonate presenting as acute renal failure

et al. 2004

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Congenital sodium diarrhea is a rare cause of secretory diarrhea due to a defect in the sodium/proton exchanger that results in decreased sodium absorption and increased excretion in stools. We report a pre-term baby boy with a birth weight of 1.4 kg who was referred because of rapidly rising serum urea and creatinine. The initially reported high urine output was later found to be severe watery diarrhea with severe oliguria and acute renal failure. Associated findings were normal anion gap metabolic acidosis with hyponatremia that required > 50 mmol/kg of sodium per day for correction and about 300 ml/kg per day of replacement fluid to correct fluid and electrolyte abnormalities. The patient continues to do well 5 months after diagnosis.

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