RESUMEN
Malignant infantile osteopetrosis (MIOP) is a rare cause in the list of etiological factors of neonatal hypocalcemia in several textbooks. The most severe complication of MIOP is bone marrow suppression. The abnormal expansion of bone interferes with medullary haematopoiesis. Most children with this disease die within the first decade of life of secondary consequence of bone marrow failure. Hematopoietic stem cell transplantation (HSCT) is the only curative therapy for MIOP, an otherwise fatal disease. We present a neonate with MIOP that was further complicated with vitamin D deficiency.
Asunto(s)
Trasplante de Médula Ósea , Osteopetrosis/patología , Osteopetrosis/terapia , Femenino , Hematopoyesis , Humanos , Hipocalcemia/sangre , Lactante , Recién Nacido , Masculino , Osteopetrosis/sangre , Trasplante Homólogo , Deficiencia de Vitamina D/sangre , Deficiencia de Vitamina D/patología , Deficiencia de Vitamina D/terapiaRESUMEN
Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport. Affected patients develop life-threatening neonatal-onset salt loss, hyperkalemia, acidosis, and elevated aldosterone levels due to end-organ resistance to aldosterone. In this report, we present a patient diagnosed as PHA-1 who had clinical and laboratory findings compatible with the diagnosis and had genetically proven autosomal recessive PHA-1. The patient received high doses of sodium supplementation and potassium-lowering therapies; however, several difficulties were encountered in the management of this case. The aim of this presentation was to point out the potential pitfalls in the treatment of such patients in the clinical practice and to recommend solutions.