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Hypophosphatasia
 | This article needs additional citations for verification. (May 2016) |
| Hypophosphatasia | |
|---|---|
| Other names | Phosphoethanolaminuria; Rathbun's syndrome[1] |
 | |
| Ribbon diagram of the alkaline phosphatase protein, which is deficient in individuals with hypophosphatasia | |
| Pronunciation |
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| Specialty | Orthopedics, pediatrics, endocrinology |
| Symptoms | Variable—may include osteopenia, skeletal hypomineralization, respiratory compromise |
| Onset | Birth |
| Duration | Lifelong |
| Types | Infantile, childhood, adult, and odontohypophosphatasia |
| Causes | Mutation of the ALPL gene[2] |
| Diagnostic method | Comprehensive metabolic panel test for serum alkaline phosphatase level; examination of X-rays; genetic tests of ALPL |
| Differential diagnosis | Osteogenesis imperfecta, congenital dwarfisms, skeletal dysplasias |
| Treatment | Asfotase alfa (Strensiq), an enzyme replacement therapy |
| Prognosis | Severe perinatal forms are lethal without treatment; adult forms may only show moderate symptoms |
| Frequency | Rare (1 in 100,000);[3] more common in some populations[4] |
Hypophosphatasia (/ˌhaɪpoʊˈfɒsfeɪtˌeɪʒə/; also called deficiency of alkaline phosphatase, phosphoethanolaminuria,[5] or Rathbun's syndrome;[1] sometimes abbreviated HPP[6]) is a rare, and sometimes fatal, inherited[7] metabolic bone disease.[8] Clinical symptoms are heterogeneous, ranging from the rapidly fatal, perinatal variant, with profound skeletal hypomineralization, respiratory compromise or vitamin B6 dependent seizures[6] to a milder, progressive osteomalacia later in life. Tissue non-specific alkaline phosphatase (TNSALP) deficiency in osteoblasts and chondrocytes impairs bone mineralization, leading to rickets or osteomalacia.[7] The pathognomonic finding is subnormal serum activity of the TNSALP enzyme, which is caused by one of 388 genetic mutations identified to date, in the gene encoding TNSALP. Genetic inheritance is autosomal recessive for the perinatal and infantile forms but either autosomal recessive or autosomal dominant in the milder forms.
The prevalence of hypophosphatasia is not known; one study estimated the live birth incidence of severe forms to be 1:100,000.[3] and some studies report a higher prevalence of milder disease.[9]
- ^ a b Cite error: The named reference
Britannicawas invoked but never defined (see the help page). - ^ Cite error: The named reference
Choida2019was invoked but never defined (see the help page). - ^ a b Fraser D (May 1957). "Hypophosphatasia". The American Journal of Medicine. 22 (5): 730–746. doi:10.1016/0002-9343(57)90124-9. PMID 13410963.
- ^ Cite error: The named reference
Greenberg1993was invoked but never defined (see the help page). - ^ "Hypophosphatasia". Genetics Home Reference.
- ^ a b "Hypophosphatasia". NORD (National Organization for Rare Disorders). Retrieved 2020-12-24.
- ^ a b Orimo H (2016-05-17). "Pathophysiology of hypophosphatasia and the potential role of asfotase alfa". Therapeutics and Clinical Risk Management. 12: 777–786. doi:10.2147/TCRM.S87956. PMC 4876073. PMID 27274262.
- ^ Whyte MP (2001). "Hypophosphatasia". In Scriver CR, Beaudet AL, Sly WS, Valle D, Vogelstein B (eds.). The Metabolic & Molecular Bases of Inherited Disease. Vol. 4 (8th ed.). New York: McGraw-Hill. pp. 5313–29. ISBN 978-0-07-913035-8.
- ^ García-Fontana C, Villa-Suárez JM, Andújar-Vera F, González-Salvatierra S, Martínez-Navajas G, Real PJ, et al. (July 2019). "Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene". Scientific Reports. 9 (1): 9569. Bibcode:2019NatSR...9.9569G. doi:10.1038/s41598-019-46004-2. PMC 6606844. PMID 31267001.
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