Butyrate as an effective treatment of congenital chloride diarrhea.
OBJECTIVE
Many therapeutic attempts have demonstrated to be ineffective in reducing the severity of congenital chloride diarrhea and its long-term complications. The short-chain fatty acid butyrate stimulates intestinal water and ion absorption through a variety of mechanisms, including the activation of a parallel Cl-/butyrate and Na+/H+ exchanger. In this case report, we report the therapeutic efficacy of butyrate on an 11-year-old patient affected by congenital chloride diarrhea.


METHODS
The efficacy of increasing doses of oral butyrate (from 50 to 100 mg/kg/day) was investigated through the daily evaluation of stool volume, bowel movements, fecal incontinence, serum, and stool electrolytes concentrations. The modifications in transepithelial intestinal ion transport elicited by butyrate were examined by rectal dialysis study.


RESULTS
A butyrate dose of 100 mg/kg/day induced a normalization of stool pattern and of serum and fecal electrolytes concentration. The rectal dialysis study demonstrated a proabsorptive effect induced by butyrate on Na+, Cl-, and K+ intestinal transport. Butyrate therapy was well tolerated during the entire 12-month observation period, and the stool pattern and fecal and serum ion concentrations remained stable within the normal ranges. No clinical adverse events or episodes of dehydration requiring hospital care were observed.


CONCLUSIONS
Butyrate could be effective in treating congenital chloride diarrhea. 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.
Department of Pediatrics, University Federico II, Naples, Italy. berni@unina.it
Roberto Berni
RB
Canani
Gianluca
G
Terrin
Pia
P
Cirillo
Giuseppe
G
Castaldo
Francesco
F
Salvatore
Giuseppe
G
Cardillo
Anna
A
Coruzzo
Riccardo
R
Troncone
D002087:Butyrates / Q000008:administration & dosage*; D002648:Child; D002712:Chlorides / Q000378:metabolism*; D003681:Dehydration / Q000517:prevention & control; D003967:Diarrhea / Q000151:congenital / Q000188:drug therapy* / Q000378:metabolism; D005243:Feces; D006801:Humans; D008297:Male; D012720:Severity of Illness Index; D014882:Water-Electrolyte Balance / Q000187:drug effects
D002087:Butyrates; D002712:Chlorides