Albright's hereditary osteodystrophy
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Albright's hereditary osteodystrophy
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This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (June 2008) |
| Albright's hereditary osteodystrophy | |
|---|---|
| Classification and external resources | |
| ICD-10 | E20.1 |
| ICD-9 | 275.49 |
| OMIM | 103580 |
| DiseasesDB | 10835 |
Albright’s hereditary osteodystrophy is form of osteodystrophy,[1] otherwise known as Pseudohypoparathyroidism type 1a.
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Contents
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Characteristics
The disorder is characterized by a lack of responsiveness to parathyroid hormone,[2] resulting in low serum calcium, high serum phosphate, and appropriately high serum parathyroid hormone.
Individuals with Albright’s hereditary osteodystrophy have short stature, characteristically shortened fourth and fifth metacarpals, rounded facies, and often mild mental retardation.[3][4]
Albright’s hereditary osteodystrophy is commonly known as Pseudohypoparathyroidism because the kidney responds as if parathyroid hormone were absent. In fact, blood levels of parathyroid hormone are elevated in Pseudohypoparathyroidism due to the continued Hyperphosphatemia & Hypocalcemia.
Genetics
It is associated with epigenetic genetic imprinting.[5] Because of this the disease can occur when a mother with mild clinical symptoms or a de novo mutation of the maternal allele passes it to her offspring.
It is believed to be inherited in an autosomal dominant pattern.[6]
It is associated with a Gs alpha subunit deficiency.[7]
Eponym
The disorder bears the name of Fuller Albright, who characterized it in 1942.[8][9] He was also responsible for characterizing Albright syndrome as well as a number of other bone disorders.
He originally named it "Sebright Bantam syndrome", after the Sebright Bantam, which demonstrated an analogous hormone insensitivity.[10]
Much less commonly, the term "Martin-Albright syndrome" is used,[11] after the first author of a 1940 paper in a Swiss medical journal that may have described a case.[12][13]
See also
- Pseudopseudohypoparathyroidism, the syndrome of GNAS paternal inheritance which results in similar dismorphology but normal biochemistry.
- Brachydactyly mental retardation syndrome, a similar disease.
References
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 657. ISBN 1-4160-2999-0.
- ^ Namnoum AB, Merriam GR, Moses AM, Levine MA (March 1998). "Reproductive dysfunction in women with Albright's hereditary osteodystrophy". J. Clin. Endocrinol. Metab. 83 (3): 824–9. doi:10.1210/jc.83.3.824. PMID 9506735. http://jcem.endojournals.org/cgi/pmidlookup?view=long&pmid=9506735.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 103580
- ^ Garavelli L, Pedori S, Zanacca C, et al. (April 2005). "Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1". Acta Biomed 76 (1): 45–8. PMID 16116826.
- ^ de Nanclares GP, Fernández-Rebollo E, Santin I, et al. (June 2007). "Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy". J. Clin. Endocrinol. Metab. 92 (6): 2370–3. doi:10.1210/jc.2006-2287. PMID 17405843. http://jcem.endojournals.org/cgi/pmidlookup?view=long&pmid=17405843.
- ^ Fitch N; Opitz, John M.; Herrmann, JüRgen (January 1982). "Albright's hereditary osteodystrophy: a review" (Free full text). American journal of medical genetics 11 (1): 11–29. doi:10.1002/ajmg.1320110104. PMID 6278930. http://toxnet.nlm.nih.gov/cgi-bin/sis/search/r?dbs+hsdb:@term+@na+CALCIUM+COMPOUNDS.
- ^ Patten JL, Johns DR, Valle D, et al. (May 1990). "Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy". N. Engl. J. Med. 322 (20): 1412–9. doi:10.1056/NEJM199005173222002. PMID 2109828.
- ^ Wilson LC, Trembath RC (October 1994). "Albright's hereditary osteodystrophy" (PDF). J. Med. Genet. 31 (10): 779–84. doi:10.1136/jmg.31.10.779. PMC 1050125. PMID 7837255. http://jmg.bmj.com/content/31/10/779.long.
- ^ Albright F, Burnett CH, Smith PH, et al. (1942). "Pseudo-hypoparathyroidism-example of 'Seabright-Bantam syndrome'; report of three cases". Endocrinology 30: 922–932.
- ^ synd/164 at Who Named It?
- ^ Quist SR, Franke I, Hiort O, Gollnick HP, Leverkus M (January 2009). "First diagnosis of Martin-Albright syndrome in a 58-year-old patient". J Dtsch Dermatol Ges 7 (1): 43–5. doi:10.1111/j.1610-0387.2008.06862.x. PMID 19138295.
- ^ synd/1654 at Who Named It?
- ^ Martin D, Bourdillon J (1940). "Un cas de tétanie idiopathique chronique. Échec thérapeutique de la graffe d’un adénome parathyroïdien". Revue médicale de la Suisse romande (Lausanne) 60: 1166–77.
External links
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