ABSTRACT
Las diarreas congénitas son patologías graves de baja frecuencia y alta mortalidad. Se manifiestan durante los primeros días o meses de vida con severa diarrea, generando insuficiencia intestinal y dependencia de nutrición parenteral. Se debe sospechar ante un recién nacido o lactante con pérdidas masivas hidroelectrolíticas, y se diagnostican utilizando parámetros clínicos, endoscópicos, histológicos y eventualmente genéticos. El tratamiento es de soporte, con reposición hidroelectrolítica intensa y nutricional. OBJETIVO: Presentar un caso de diarrea congénita, identificada como Enfermedad por Inclusión Microvellositaria, de presentación neonatal. CASO CLÍNICO: Paciente varón edad actual 3 años, hijo de padres consanguíneos, quien debutó a los 10 días de vida con diarrea secretora severa, requiriendo ingreso a unidad de paciente crítico y nutrición parenteral permanente. Inicialmente además con síndrome de Fanconi, que luego se recupera. Se confirmó la sospecha de Enfermedad de Inclusión Microvellositaria utilizando microscopia óptica, electrónica e inmunohistoquímica. Se obtuvo una favorable evolución utilizando nutrición parenteral total (NPT) a domicilio. CONCLUSIONES: Se presenta el primer caso conocido en Chile de un paciente con diarrea congénita por inclusión microvellositaria manejado y su evolución.
Congenital diarrheas correspond to a severe and low frequency digestive disease, with a high mortality. They start a few days or months after birth, leading to intestinal insufficiency and dependence on parenteral nutrition. It must be highly suspected in newborns or infants with diarrhea and severe electrolyte disorders. The diagnosis is based on clinical, endoscopic, histologic and eventually genetic findings. Treatment is supportive with intensive correction of electrolyte imbalances as well as parenteral nutrition. OBJECTIVE: To present a case report of congenital diarrhea identified as microvillous inclusion disease presenting in the neonatal period. CASE REPORT: Male patient currently 3 years of age, son of consanguineous parents. At 10 days of age presents a severe secretory diarrhea, requiring treatment in a critical care unit and parenteral nutrition. Initially he also presented with Fanconi syndrome, which improved afterwards. The suspicion of congenital microvillous inclusion was confirmed later by optic and electronic microscopy, and inmunohistochemistry. A succesful evolution was later achieved maintaining home parenteral nutrition after discharge. CONCLUSION: We present the first known case in Chile of congenital diarrhea due to microvillous inclusión disease and his evolution.
Subject(s)
Humans , Male , Infant, Newborn , Child, Preschool , Diarrhea/congenital , Malabsorption Syndromes/diagnosis , Microvilli/pathology , Mucolipidoses/diagnosis , Severity of Illness Index , Chile , Disease Progression , Diarrhea/etiology , Malabsorption Syndromes/complications , Mucolipidoses/complicationsABSTRACT
Objective: To observe the clinical effect of tuina plus medications on infantile diarrhea induced by rotavirus infection. Methods: After 55 cases of confirmed sick infants were divided into two groups by the order of their visits, 30 cases in the medication group were treated by intravenous infusion of Ribavirin and oral administration of Smecta; 25 cases in the tuina plus medication group were treated by the manual techniques of tonifying Pijing(脾经) and clarifying Dachangjing (大肠经), rubbing the abdomen and kneading the navel clockwise, pushing Shangqijiegu (上七节骨), kneading Guiwei (龟尾), and pinching the skin of the spine, in combination with same medications used as in the medication group. Results: The total effective rate was 96% in the tuina plus medication group, P < 0.01, in comparison with the medication group. Conclusion: tuina has a good therapeutic effect in the treatment of infantile diarrhea induced by rotavirus infection and is importantly significant for shortening the course, enhancing the therapeutic effect and lowering down the medical cost.