Albright's hereditary osteodystrophy

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This article is about the subtype of pseudohypoparathyroidism known as Albright's hereditary osteodystrophy. For the genetically-related condition, see McCune-Albright Syndrome.
Albright's hereditary osteodystrophy
Individual with Albright's hereditary osteodystrophy
SymptomsChoroid plexus calcification, Full cheeks[1]
CausesGs alpha subunit deficiency[2]
Diagnostic methodCBC, Urine test[3]
TreatmentPhosphate binders, supplementary calcium [4]

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]

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.[citation needed]

Blood levels of parathyroid hormone are elevated in pseudohypoparathyroidism due to the hypocalcemia[citation needed]

Genetics

Albright's hereditary osteodystrophy has an autosomal dominant pattern of inheritance

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]

See also

References

  1. ↑ 1.0 1.1 1.2 "Albright's hereditary osteodystrophy". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Archived from the original on 11 February 2017. Retrieved 9 February 2017.
  2. ↑ 2.0 2.1 Kottler, Marie (2004). "Alpha hereditary Osteodystrophy" (PDF). Orphanet. Archived (PDF) from the original on 2021-04-26. Retrieved 2021-03-20.
  3. ↑ 3.0 3.1 "Pseudohypoparathyroidism: MedlinePlus Medical Encyclopedia". medlineplus.gov. Archived from the original on 13 February 2017. Retrieved 12 February 2017.
  4. ↑ 4.0 4.1 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. Archived from the original on 18 January 2017. Retrieved 12 February 2017.
  8. ↑ Cooper, Geoffrey M. (1 January 2000). "Pathways of Intracellular Signal Transduction". Archived from the original on 5 April 2018. Retrieved 12 February 2017. {{cite journal}}: Cite journal requires |journal= (help)
  9. ↑ Reference, Genetics Home. "What is a gene?". Genetics Home Reference. Archived from the original on 2020-05-16. 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.

Public domain This article incorporates text in the public domain from the 20th edition of Gray's Anatomy (1918)

Further reading

External links

Classification
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