Albright's hereditary osteodystrophy

Albright's hereditary osteodystrophy is a form of osteodystrophy,[5] and is classified as the phenotype of pseudohypoparathyroidism type 1A; this is a condition in which the body does not respond to parathyroid hormone.[1]

Albright's hereditary osteodystrophy
Albright's hereditary osteodystrophy has an autosomal dominant pattern of inheritance
SpecialtyEndocrinology 
SymptomsChoroid plexus calcification, Full cheeks[1]
CausesGs alpha subunit deficiency[2]
Diagnostic methodCBC, Urine test[3]
TreatmentPhosphate binders, supplementary calcium [4]

Signs and symptoms

The disorder is characterized by the following:[1]

Choroid plexus(bottom left)

Individuals with Albright hereditary osteodystrophy exhibit short stature, characteristically shortened fourth and fifth metacarpals, rounded facies, and often mild intellectual deficiency.[6]

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


Genetics

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.[2]

Mechanism

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).[7][8][9]

Diagnosis
Complete blood count

The diagnosis of Albright's hereditary osteodystrophy is based on the following exams below:[3]

Treatment

Treatment consists of maintaining normal levels of calcium, phosphorus, and vitamin D. Phosphate binders, supplementary calcium and vitamin D will be used as required.[4]

History

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]

gollark: Even if we assume I'm 6 OOM off, which I don't think is likely, *that is too big*.
gollark: But it's within a few orders of magnitude.
gollark: Also, I could exploit symmetries.
gollark: This isn't actually right. Some states are impossible because they contain multiple winning lines, for example.
gollark: Hi Zachary!

See also

References
  1. "Albright's hereditary osteodystrophy". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved 9 February 2017.
  2. Kottler, Marie (2004). "Alpha hereditary Osteodystrophy" (PDF). Orphanet.
  3. "Pseudohypoparathyroidism: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 12 February 2017.
  4. Kliegman, Robert (2016). Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier. pp. chap 572. ISBN 978-1-4557-7566-8.
  5. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 657. ISBN 978-1-4160-2999-1.
  6. 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.
  7. "OMIM Entry - # 103580 - PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A". omim.org. Retrieved 12 February 2017.
  8. Cooper, Geoffrey M. (1 January 2000). "Pathways of Intracellular Signal Transduction". Retrieved 12 February 2017. Cite journal requires |journal= (help)
  9. Reference, Genetics Home. "What is a gene?". Genetics Home Reference. Retrieved 2017-02-12.
  10. 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.
  11. 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
Classification
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.