Glucose-galactose malabsorption: Is it an indication to bowel transplantation in childhood?

Abstract

In pediatrics, different surgical and medical diseases present an indication to small bowel transplantation (SBT). Short bowel syndrome prevails among surgical pathologies although compared with the same condition in adults it often shows a reversible “intestinal failure” for a greater possibility of small bowel adaptation in younger patients. In childhood medical pathologies are more numerous and they include either some chronic intestinal pseudo-obstructions and “intractable diarrheas” a term that encompasses all conditions in which a severe and persistent diarrhea can cause irreversible intestinal failure requiring a prolonged parenteral nutrition (PN) that undertakes the role of an “artificial bowel.” Intractable diarrheas are usually due to congenital diseases of intestinal mucosa, such as microvillous congenital atrophy or epithelial dysplasia. Among congenital enterocyte diseases that may cause a severe diarrhea, at least in the first months of life, there is glucose- galactose malabsorption (GGM), which is a rare congenital disease due to a selective defect of intestinal transport of these two monosaccharides. This disease is characterized by neonatal onset of severe, watery, acidic diarrhea, which was first described in 1962 simultaneously by French and Swedish authors. In the past the severity of diarrhea and the difficulties of its management usually caused an early death. Growing knowledge of this pathology and the possibility of a precocious PN, in particular, have modified prognosis, permitting the survival of these patients although life quality is not always excellent. We report our experience with three siblings, affected by GGM, of consanguineous parents (first cousins), for whom we have a sufficient follow-up to evaluate eventual conditioning of nutritional and dietetical management on growth and life quality.