Hipofosfatasia

Abstract

r e v i s t a c o l o m b i a n a salud libre 98Revista Colombiana Salud Libre. 2016; 11 (supl) ResumenLa hipofosfatasia es una enfermedad congénita caracterizada por una deficiencia de fosfatasa alcalina no específica de tejido, que genera una mineralización anormal del tejido óseo y dental. Las manifestaciones clínicas son variables, desde formas neonatales con alta mortalidad, hasta formas más leves del adulto con fracturas por fragilidad y osteomalacia. El diagnóstico bioquímico se basa en la determinación de valores séricos bajos de fosfatasa alcalina e incremento sérico o urinario de fosfoetanolamina, piridoxal 5'-fosfato y pirofosfato inorgánico. El tratamiento ha tenido resultados limitados. Dentro de estos se ha estudiado la administración de hormona paratiroidea en la hipofosfatasia del adulto y el tratamiento de sustitución enzimática con una forma soluble de fosfatasa alcalina recombinante humana en las formas clínicas más graves.Palabras clave: Fosfatasa alcalina, Hipofostasia, Raquitismo. AbstractHypophosphatasia is a congenital disorder characterized by a deficiency of non-specific alkaline phosphatase tissue, which generates an abnormal mineralization of bone and tooth tissue. The clinical manifestations are variable, from neonatal forms with high mortality, to milder forms of adult fragility fractures and osteomalacia. The biochemical diagnosis is based on the determination of low serum alkaline phosphatase and serum or increased urinary phosphoethanolamine, pyridoxal 5'-phosphate and inorganic pyrophosphate. The treatment has had limited results. Within these has studied the administration of parathyroid hormone in adult hypophosphatasia and enzyme replacement therapy with a soluble form of recombinant human alkaline phosphatase in the most severe clinical forms.

Diagnosis of Hypophosphatasia

“…In children, under normal conditions it reaches its highest activity in the growth phase, as 85% of this isoenzyme is located in the osteoblasts (related to calcification and formation of bone structures) and 15% in the liver [5]. Exposure to variation in ALP levels may be physiological, as observed in gestation occurring at the end of the first trimester of the pregnancy, reaching peak levels (approximately twice the normal values) [6], or genetic when there are mutations in the tissue-nonspecific ALP gene. The gene is found on chromosome 1p36.1, which is composed of 12 exons distributed over more than 50 kb and has high allelic heterogeneity with more than 330 different mutations, mostly nonsense, already known [7][8][9].…”

“…Clinical manifestations are variable, from neonatal forms with high mortality due to complications in the skeletal structure that impairs respiration, to milder adult forms with fractures and osteomalacia. These manifestations can include irregular ossification, bone demineralization, short stature, bone pain and early tooth loss [6,11]. In children, clinical symptoms may appear within the first 6 months of life, with the patient D DAVID PUBLISHING presenting no phenotype indicative of the disease after the birth.…”