Active search of adult patients with persistently low serum alkaline phosphatase levels for the diagnosis of hypophosphatasia
Arch. endocrinol. metab. (Online)
;
65(3): 289-294, May-June 2021. tab, graf
Artículo
en Inglés
| LILACS
| ID: biblio-1285157
ABSTRACT
ABSTRACT Objectives: Alkaline phosphatase (ALP) is the main laboratory marker of hypophosphatasia (HPP), a rare disease unknown to most physicians. The prevalence of HPP has been widely discussed in the literature due to the diverse phenotypes of HPP. The purpose of this study was to search for patients with hypophosphatasemia based on previous biochemistry tests and reevaluate them to confirm the diagnosis of HPP. Subjects and methods: A total of 289,247 biochemical tests for ALP in adults were performed from 2015 to 2019 in two tertiary hospitals in Rio de Janeiro were reviewed (Clementino Fraga Filho University Hospital - HUCFF - and Bonsucesso Federal Hospital - BFH). Results: A total of 1,049 patients were identified with ALP levels below 40 U/L, and 410 patients had hypophosphatasemia confirmed by at least two exams. After the active search of medical reports and/or interviews based on structured questionnaires, 398 subjects were excluded due to secondary causes of reduced ALP. The remaining 12 patients were invited to attend the medical consultation at HUCFF, accompanied by at least one first-degree relative. None of the patients or their relatives had a history or clinical manifestations consistent with HPP. Serum ALP was within reference values in all relatives, but persistently low in further laboratory evaluation in all the 12 patients, in whom secondary causes were ruled out. Thus, we cannot exclude the possibility that they might carry the mutations associated with HPP. Conclusion: Further image evaluations and genetic testing would be appropriate to confirm this asymptomatic adult form of HPP.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Fosfatasa Alcalina
/
Hipofosfatasia
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
/
Investigación cualitativa
/
Factores de riesgo
Límite:
Adulto
/
Humanos
País/Región como asunto:
America del Sur
/
Brasil
Idioma:
Inglés
Revista:
Arch. endocrinol. metab. (Online)
Asunto de la revista:
Endocrinologia
/
Metabolismo
Año:
2021
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Hospital Universitário Clementino Fraga Filho/BR
/
Universidade Federal do Rio de Janeiro/BR
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