Publications

Authors:

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

Title:

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

Year:

2018

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Referee:

No

Name of journal:

CLINICAL CASES IN MINERAL AND BONE METABOLISM

ISSN of journal:

1724-8914

N° Volume:

15

Number or Folder:

2

:

CIC Edizioni Internazionali, Roma

Page numbers:

255-257

Keyword:

hypophosphatasia; bone turnover markers; menopause; osteoporosis

Short description of contents:

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.

Product ID:

117042

Handle IRIS:

11562/1027884

Last Modified:

November 30, 2022

Bibliographic citation:

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

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