ArticleArchives of endocrinology and metabolism2021
A two-year follow-up of asfotase alfa replacement in a patient with hypophosphatasia: clinical, biochemical, and radiological evaluation.
Article in Archives of endocrinology and metabolism, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 10 citations in OpenAlex.
- A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage.Children (Basel, Switzerland) · 2025Article
- Diagnostic and New Therapeutic Approaches to Two Challenging Pediatric Metabolic Bone Disorders: Hypophosphatasia and X-linked Hypophosphatemic Rickets.Current pediatric reviews · 2024Review
- Hypophosphatasia: from birth to adulthood.Archives of endocrinology and metabolism · 2023Review
- Dental loss, stress fractures, and musculoskeletal pain in a 48-year-old woman.Clinical case reports · 2023Article
- Broad application prospects of bone turnover markers in pediatrics.Journal of clinical laboratory analysis · 2022Review
- Prenatal enzyme replacement therapy forRegenerative therapy · 2021Article
- Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark.Bone reports · 2021Article
- Active search of adult patients with persistently low serum alkaline phosphatase levels for the diagnosis of hypophosphatasia.Archives of endocrinology and metabolism · 2021Article
- Case Report: Efficacy of Reduced Doses of Asfotase Alfa Replacement Therapy in an Infant With Hypophosphatasia Who Lacked Severe Clinical Symptoms.Frontiers in endocrinology · 2020Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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
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