CASE REPORTS biopsies demonstrated focal foveolar metaplasia deemed clinically Congenital Diarrhea From DGAT1 insignificant by the reading pathologist. She was discharged home Mutation Leading to Electrolyte on a combination of home parenteral nutrition and continuous nasojejunal feeds with an amino acid – based formula, after which Derangements, Protein-losing she did require 1 additional failure to thrive admission. Enteropathy, and Rickets She then presented to our institution at 7 months of age following several days of pronounced watery diarrhea. She was clinically dehydrated but otherwise had an unremarkable physical y y Thomas L. Ratchford, Amelia J. Kirby, Hailey Pinz, examination. Her weight was low (5.8 kg, z score 2.5), but her and Dhiren R. Patel length and head circumference were preserved. Her development was age appropriate. She had severe metabolic derangements, including nonanion gap metabolic acidosis (pH 7.21, anion gap 12 mmol/L) with respiratory compensation (pCO 16 mmHg), ongenital diarrhea disorders represent a group of uncommon, serum bicarbonate 6 mmol/L, serum phosphorus 2.35 mg/dL, clinically varying enteropathies that are often diagnostically alanine aminotransferase 237 U/L, aspartate aminotransferase challenging. Recent advancements in genetic and molecular testing 173 U/L, and alkaline phosphatase 1664 U/L. She was also found has allowed for identification
Journal of Pediatric Gastroenterology & Nutrition – Wolters Kluwer Health
Published: Mar 1, 2018
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