ESPE2023 Poster Category 2 Bone, Growth Plate and Mineral Metabolism (27 abstracts)
Pediatric onset hypophosphatasia: a case report
Rossella Mascaro , Anna Lia Magnacavallo , Martina Finamore , Chiara Ferri , Monica Palmoni , Ilaria Polenzani , Alessia Rizzi , Silvia Laura Carla Meroni , Carmen Bucolo , Marco Pitea , Giovanna Weber , Graziano Barera & Gabriella Cinzia Pozzobon
Department of Pediatrics, Endocrine Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy
A 8 years and 7 months old male presented with short stature related to his target height. No history of bones fractures. The patient was 120.7 cm (- 1.77 SDS). Physical exam demonstrated peculiar facies, relative macrocephaly, delayed tooth eruption and pectus carinatum. He referred during the clinical evaluation diffuse bone pain and weakness, mostly exacerbated by sport activity. A first diagnostic investigation had already been made showing low serum alkaline phosphatase activity (124 U/L, 140-400). Taking into account of all these clinical elements, we performed laboratory investigations aimed to evaluate calcium-phosphate metabolism. We found out a low serum ALP value for age and gender (125 U/L, n.v. 140-400), and elevated vitamin B6 level (38.2 mg/dl, 3.6-18). Blood calcium, phosphate, parathormone and vitamin D levels were normal. Due to these findings, targeted NGS for hypophosphatasia was performed. A mutation in ALPL gene was detected (c.1183A>G heterozygote) already classified as a pathogenetic variant. After the diagnosis was made, a DEXA scan was carried out and reported a normal Z score for age and gender. The leg radiographs didn’t identify any specific radiographic abnormality of hyphosphatasia. Hyphosphatasia has a wide possibility of clinical manifestations and this can obstacle the diagnosis, particularly when the symptoms, as in our case, are chronic pain and bone impairment (1). However, a calcium-phosphate metabolism’s study including the measure of ALP serum level, and a mutations analysis of ALPL gene allowed here a rapid diagnosis. Considering the pediatric onset, our patient is eligible to be treated with Asfotase alfa (Strensiq), a human recombinant ALP therapy recently approved, which showed clinical improvements and skeletal healing during the trials’ phase 2 (2). At the moment, we are discussing the risk-benefit balance about using a new therapeutic tool, whose long and short-term results are limited, in a context of disabling symptoms but nuanced osteo-articular involvement, given the early diagnosis.
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