A two-year follow-up of asfotase alfa replacement in a patient with hypophosphatasia: clinical, biochemical, and radiological evaluation
Arch. endocrinol. metab. (Online)
;
64(5): 623-629, Sept.-Oct. 2020. tab, graf
Artigo
em Inglês
| LILACS
| ID: biblio-1131137
ABSTRACT
SUMMARY Hypophosphatasia (HPP) is a rare disease with a high mortality rate in its severe forms. It is caused by mutations within the gene encoding the tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme responsible for bone mineralization. In 2015, the Food and Drug Administration approved the use of asfotase alfa, the first medication showing benefit in the treatment of HPP. We describe a case with a 2-year follow-up of the first Brazilian child treated with asfotase alfa. A 5-year-old boy, born to consanguineous parents, was diagnosed with HPP at the age of 20 months. During prenatal ultrasonography, polyhydramnios and shortening of long bones were detected. After birth, he presented delayed motor development, repeated respiratory infections, and bone deformities. At the age of 2 years and 8 months, he started walking and had already lost his primary teeth. He had reduced levels of alkaline phosphatase (ALP), elevated levels of pyridoxal 5'-phosphate (PLP), and a p.Ala33Val (c.98C>T) missense mutation in homozygosis in the TNSALP gene. His parents and sister also had reduced ALP levels, high PLP levels, and the same mutation in heterozygosis. His father and sister were healthy, and his mother was diagnosed with rickets in childhood, which resulted in short physical stature and lower limb deformities. The patient was started on asfotase alfa at the age of 2 years and 10 months. After 2 years of treatment, he improved his motor skills, had no further episodes of severe respiratory infection, and showed improved radiological findings of rickets, without any severe side effect.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Fosfatase Alcalina
/
Hipofosfatasia
Tipo de estudo:
Estudo observacional
/
Estudo prognóstico
Limite:
Criança
/
Criança, pré-escolar
/
Humanos
/
Masculino
/
Recém-Nascido
País/Região como assunto:
América do Norte
/
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
Arch. endocrinol. metab. (Online)
Assunto da revista:
Endocrinologia
/
Metabolismo
Ano de publicação:
2020
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Instituto Master de Ensino Presidente Antônio Carlos/BR
/
Universidade Federal de São Paulo/BR
/
Universidade Federal de Uberlândia/BR
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