Pubblicazioni

Autori:

Adami, G.; Viapiana, O.; Rossini, M.; Risoli, M.; Gandini, A.; Bertoldo, F.; Fassio, A.; Idolazzi, L.; Antoniazzi, F.; Gatti, D.

Titolo:

Hypophosphatasia in adults: A new manifestation, a new mutation. A case report

Anno:

2018

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Referee:

No

Nome rivista:

CLINICAL CASES IN MINERAL AND BONE METABOLISM

ISSN Rivista:

1724-8914

N° Volume:

15

Numero o Fascicolo:

2

Editore:

CIC Edizioni Internazionali, Roma

Intervallo pagine:

255-257

Parole chiave:

hypophosphatasia; bone turnover markers; menopause; osteoporosis

Breve descrizione dei contenuti:

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.

Id prodotto:

117042

Handle IRIS:

11562/1027884

ultima modifica:

30 novembre 2022

Citazione bibliografica:

Adami, G.; Viapiana, O.; Rossini, M.; Risoli, M.; Gandini, A.; Bertoldo, F.; Fassio, A.; Idolazzi, L.; Antoniazzi, F.; Gatti, D., Hypophosphatasia in adults: A new manifestation, a new mutation. A case report «CLINICAL CASES IN MINERAL AND BONE METABOLISM» , vol. 15 , n. 2 , 2018 , pp. 255-257

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo