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Hypophosphatasia: From Diagnosis to Treatment

Hypophosphatasia: From Diagnosis to Treatment

Sebastian Simon, Heinrich Resch, Klaus Klaushofer, Paul Roschger, Jochen Zwerina, Roland Kocijan

Curr Rheumatol Rep. 2018 Sep 10;20(11):69.

PMID: 30203264

Abstract:

Purpose of review:
Hypophosphatasia (HPP) is a rare genetic disorder caused by mutations of the ALPL gene. ALPL encodes the tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP). Consequently, bone mineralization is decreased leading to fractures, arthralgia, and extra-skeletal manifestations including tissue calcification, respiratory failure, and neurological complications. This review summarizes the most important clinical findings, diagnosis, and treatment options for HPP.
Recent findings:
Asfotase alfa is a recombinant human alkaline phosphatase, used as treatment for the underlying cause of HPP. Asfotase alfa enhances the survival in life-threatening HPP and improves bone mineralization, muscle strength, and pulmonary function. However, discontinuation of asfotase alfa leads to reappearance of bone hypomineralization. Due to its varied manifestations, HPP often mimics rheumatological and other bone diseases, thereby delaying its diagnosis. Asfotase alfa, a recombinant alkaline phosphatase, is available for the long-term enzyme replacement therapy in patients with pediatric-onset HPP to treat the bone manifestations of the disease.

Chemicals Related in the Paper:

Catalog Number	Product Name	Structure	CAS Number	Price
AP9001789-A	Alkaline Phosphatase Recombinant		9001-78-9	Price

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