Albright's hereditary osteodystrophy
| Albright's hereditary osteodystrophy | |
|---|---|
| Classification and external resources | |
| Specialty | endocrinology |
| ICD-10 | E20.1 |
| ICD-9-CM | 275.49 |
| OMIM | 103580 |
| DiseasesDB | 10835 |
Albright hereditary osteodystrophy is form of osteodystrophy,[1] otherwise known as pseudohypoparathyroidism type 1a.
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 hereditary osteodystrophy exhibit short stature, characteristically shortened fourth and fifth metacarpals, rounded facies, and often mild intellectual deficiency.[3][4]
Albright 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 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 McCune-Albright syndrome (also known as Albright syndrome), as well as several other bone disorders.
Albright originally named it "Sebright bantam syndrome," after the Sebright bantam chicken, which demonstrates an analogous hormone insensitivity.[10]
Much less commonly, the term Martin-Albright syndrome is used.[11] This refers to Eric Martin.[12][13]
See also
- Pseudopseudohypoparathyroidism, the syndrome of GNAS paternal inheritance which results in similar dysmorphology but normal biochemistry.
- Brachydactyly mental retardation syndrome, a similar disorder.
External links
- Laboratory for Molecular Diagnostics, Center for Nephrology and Metabolic Disorders
- DermAtlas -1818850366
References
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 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://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=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.
- ↑ 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.
- ↑ 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". J. Med. Genet. 31 (10): 779–84. doi:10.1136/jmg.31.10.779. PMC 1050125
. PMID 7837255. - ↑ F. Albright, C. H. Burnett, P. H. Smith, et al. Pseudo-hypoparathyroidism-example of 'Seabright-Bantam syndrome'; report of three cases. Endocrinology, Baltimore, 1942, 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?
- ↑ D. Martin, J. Bourdillon. Un cas de tétanie idiopathique chronique. Échec thérapeutique de la graffe d’un adénome parathyroïdien. Revue médicale de la Suisse romande, Lausanne, 1940, 60: 1166-1177.