Albright's hereditary osteodystrophy
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Albright's hereditary osteodystrophy is a form of osteodystrophy,[1] and is classified as the phenotype of pseudohypoparathyroidism type 1A; this is a condition in which the body does not respond to parathyroid hormone.[2]
Signs and symptoms[edit | edit source]
The disorder is characterized by the following:[2]
- Hypogonadism
- Brachydactyly syndrome
- Choroid plexus calcification
- Hypoplasia of dental enamel
- Full cheeks
- Hypocalcemic tetany
Individuals with Albright hereditary osteodystrophy exhibit short stature, characteristically shortened fourth and fifth metacarpals, rounded facies, and often mild intellectual deficiency.[3]
Albright hereditary osteodystrophy is commonly known as pseudohypoparathyroidism because the kidney responds as if parathyroid hormone were absent. Blood levels of parathyroid hormone are elevated in pseudohypoparathyroidism due to the hypocalcemia[medical citation needed]
Genetics[edit | edit source]
This condition is associated with genetic imprinting. It is thought to be inherited in an autosomal dominant pattern, and seems to be associated with a Gs alpha subunit deficiency.[4]
Mechanism[edit | edit source]
The mechanism of this condition is due to Gs signaling decrease in hormones having to do with signal transduction which is when a signal from outside cell causes change within the cell (in function). Renal tubule cells only express maternal alleles (variant form of a gene).[5][6][7]
Diagnosis[edit | edit source]
The diagnosis of Albright's hereditary osteodystrophy is based on the following exams below:[8]
Treatment[edit | edit source]
Treatment consists of maintaining normal levels of calcium, phosphorus, and vitamin D. Phosphate binders, supplementary calcium and vitamin D will be used as required.[9]
History[edit | edit source]
The disorder bears the name of Fuller Albright, who characterized it in 1942.[10] He was also responsible for naming it "Sebright bantam syndrome," after the Sebright bantam chicken, which demonstrates an analogous hormone insensitivity. Much less commonly, the term Martin-Albright syndrome is used, this refers to Eric Martin.[11]
See also[edit | edit source]
References[edit | edit source]
- ↑
- ↑ 2.0 2.1 "Albright's hereditary osteodystrophy". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved 9 February 2017.
- ↑
- ↑ Kottler, Marie (2004). "Alpha hereditary Osteodystrophy" (PDF). Orphanet.
- ↑ "OMIM Entry - # 103580 - PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A". omim.org. Retrieved 12 February 2017.
- ↑
- ↑ Reference, Genetics Home. "What is a gene?". Genetics Home Reference. Retrieved 2017-02-12.
- ↑ "Pseudohypoparathyroidism: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 12 February 2017.
- ↑
- ↑ 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.
- ↑ 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.
Further reading[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
