Improvement of bone microarchitecture parameters after 12 months of treatment with asfotase alfa in adult patient with hypophosphatasia: Case report

Rationale: Hypophosphatasia is an inborn error of metabolism that can appear any time in life, mainly with bone manifestations due to low alkaline phosphatase activity. Asfotase alfa is a specific enzyme reposition treatment that has shown promising results in children; however, there are few reports about the outcomes in adult patients. Patient concerns: A 36-year-old male presented with an early history of craniosynostosis, short stature, and multiple fractures since the age of 13 years—which needed numerous surgical corrections. He was admitted with a previous diagnosis of osteogenesis imperfecta, taking alendronate, calcium carbonate, cholecalciferol, and calcitriol. Bone mineral density was low (lumbar spine Z-score = −3.0 SD), with impairment of all parameters of high-resolution peripheral quantitative computed tomography (HR-pQCT). Kidney impairment was also observed with reduced creatinine clearance, nephrolithiasis, and nephrocalcinosis. Diagnosis: Alkaline phosphatase was unexpectedly low (6 U/L, reference value: 30–120 U/L), with high serum vitamin B6 (260 mcg/L, reference value: 5.2–34.1). Genetic testing showed a homozygous missense mutation in ALPL gene c.443 C>T: p.Thr148Ile. Intervention: Asfotase alfa was requested due to important bone deterioration, ambulatory disability, and kidney impairment. It was given subcutaneously 2 mg/kg per dose, 3 times a week, for 12 months before reassessment. Outcomes: Bone mineral densities of ...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research