Buscar

Estamos realizando la búsqueda. Por favor, espere...

 Detalle_Publicacion

Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults

Abstract: Background: Low serum levels of alkaline phosphatase (ALP) are a hallmark of hypophosphatasia. However, the clinical significance and the underlying genetics of low ALP in unselected populations are unclear. Methods: In order to clarify this issue, we performed a clinical, biochemical and genetic study of 42 individuals (age range 20–77 yr) with unexplained low ALP levels. Results: Nine hadmild hyperphosphatemia and three hadmild hypercalcemia. ALP levelswere inversely correlated with serum calcium (r = -0.38, p = 0.012), pyridoxal phosphate (PLP; r = -0.51, p = 0.001) and urine phosphoethanolamine (PEA; r = -0.49, p = 0.001). Although many subjects experienced minor complaints, such as mild musculoskeletal pain, none hadmajor health problems.Mutations in ALPL were found in 21 subjects (50%), including six novelmutations. All but one,were heterozygousmutations.Missensemutations were themost common (present in 18 subjects; 86%) and themajority were predicted to have a damaging effect on protein activity. The presence of amutated allelewas associated with tooth loss (48% versus 12%; p=0.04), slightly lower levels of serumALP (p=0.002), higher levels of PLP (p b 0.0001) and PEA (p b 0.0001), aswell asmildly increased serum phosphate (p=0.03). Ten individuals (24%) had PLP levels above the reference range; all carried a mutated allele. Conclusion: One-half of adult individuals with unexplained low serum ALP carried an ALPL mutation. Although the associated clinicalmanifestations are usuallymild, in approximately 50% of the cases, enzyme activity is lowenough to cause substrate accumulation and may predispose to defects in calcified tissues.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: European Journal of Internal Medicine 29 (2016) 40?45

Editorial: Elsevier

 Fecha de publicación: 01/04/2016

Nº de páginas: 6

Tipo de publicación: Artículo de Revista

 DOI: 10.1016/j.ejim.2015.12.019

ISSN: 0953-6205,1879-0828

Autoría

LEYRE RIANCHO ZARRABEITIA

MARIA TERESA GARCIA UNZUETA

TENORIO, JAIR A.

JUAN A. GOMEZ GERIQUE

RUIZ PÉREZ, VÍCTOR L.

HEATH, KAREN E.

LAPUNZINA, PABLO