Danish
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
Journal of Bone and Mineral Research 2019-Dec

Loss-of-function mutations in the ALPL gene presenting with adult onset osteoporosis and low serum concentrations of total alkaline phosphatase.

Kun registrerede brugere kan oversætte artikler
Log ind / Tilmeld
Linket gemmes på udklipsholderen
Nerea Alonso
Beatriz Larraz-Prieto
Kathryn Berg
Zoe Lambert
Paul Redmond
Sarah Harris
Ian Deary
Carys Pugh
James Prendergast
Stuart Ralston

Nøgleord

Abstrakt

Hypophosphatasia (HPP) is a rare inherited disorder characterised by rickets and low circulating concentrations of total alkaline phosphatase (ALP) caused by mutations in ALPL. Severe HPP presents in childhood but milder forms can present in adulthood. The prevalence and clinical features of adult HPP are poorly defined. The aim of this study was to evaluate the prevalence and clinical significance of low serum total alkaline phosphatase (ALP) levels in a clinic-based population of adult osteoporotic patients. We searched for patients with low ALP in a cohort of 3285 patients referred to an osteoporosis clinic over a 10-year period and performed mutation screening of ALPL in those with low ALP (≤40U/L) on two or more occasions. These individuals were matched with four clinic controls with a normal ALP. We also evaluated the prevalence of low ALP and ALPL mutations in 639 individuals from the general population from the same region. We identified 16/3285 (0.49%) clinic patients with low ALP and 14 (87.5%) had pathogenic variants in ALPL. Ten of these individuals were heterozygous for mutations previously described in HPP and two were heterozygous for novel mutations (p.Arg301Trp and p.Tyr101X). These mutations were not found in clinic controls or in the general population. Eight patients with low ALP, including four with ALPL mutations, were treated with bisphosphonates for an average of 6.5 years. In these individuals, the rate of fractures during treatment was comparable to that in normal ALP clinic controls who were treated with bisphosphonates. We conclude that heterozygous loss-of-function mutations in ALPL are common in osteoporosis patients with low ALP. Further studies are required to determine how best these individuals should be treated. This article is protected by copyright. All rights reserved.

Deltag i vores
facebook-side

Den mest komplette database med medicinske urter understøttet af videnskab

  • Arbejder på 55 sprog
  • Urtekurer, der understøttes af videnskab
  • Urtegenkendelse ved billede
  • Interaktivt GPS-kort - tag urter på stedet (kommer snart)
  • Læs videnskabelige publikationer relateret til din søgning
  • Søg medicinske urter efter deres virkninger
  • Organiser dine interesser og hold dig opdateret med nyhedsundersøgelser, kliniske forsøg og patenter

Skriv et symptom eller en sygdom, og læs om urter, der kan hjælpe, skriv en urt og se sygdomme og symptomer, den bruges mod.
* Al information er baseret på offentliggjort videnskabelig forskning

Google Play badgeApp Store badge