Tissue non-specific alkaline phosphatase (TNSALP) is an ubiquitary enzyme fundamental for bone tissue development and growth. Adult Hypophosphatasia (HPP) is a rare genetic disease caused by a defective TNSALP activity. HPP is frequently misdiagnosed due to the lack of clinical manifestation. We report an asymptomatic woman with HPP that during 5 years follow-up suffered of a bone fracture. Sequencing of genomic DNA revealed a previously unreported mutation at nucleotide 1252G > A (Gly418Arg) leading to a defective enzyme product in the subject. HPP was suspected because of the lack of the expected increase of serum TNSALP at menopause. Our case report underlines the importance of early diagnosis and that the lack of increase of TNSALP at meno pause must be a wake-up call for clinicians.
Hypophosphatasia in adults: A new manifestation, a new mutation. A case report
Adami, G.;Viapiana, O.;Rossini, M.;Risoli, M.;Gandini, A.;Bertoldo, F.;Fassio, A.;Idolazzi, L.;Antoniazzi, F.;Gatti, D.
2018-01-01
Abstract
Tissue non-specific alkaline phosphatase (TNSALP) is an ubiquitary enzyme fundamental for bone tissue development and growth. Adult Hypophosphatasia (HPP) is a rare genetic disease caused by a defective TNSALP activity. HPP is frequently misdiagnosed due to the lack of clinical manifestation. We report an asymptomatic woman with HPP that during 5 years follow-up suffered of a bone fracture. Sequencing of genomic DNA revealed a previously unreported mutation at nucleotide 1252G > A (Gly418Arg) leading to a defective enzyme product in the subject. HPP was suspected because of the lack of the expected increase of serum TNSALP at menopause. Our case report underlines the importance of early diagnosis and that the lack of increase of TNSALP at meno pause must be a wake-up call for clinicians.
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