Albright's hereditary osteodystrophy

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Albright's hereditary osteodystrophy
Autodominant.jpg
Albright's hereditary osteodystrophy has an autosomal dominant pattern of inheritance
Classification and external resources
Specialty endocrinology
ICD-10 E20.1
ICD-9-CM 275.49
OMIM 103580
DiseasesDB 10835

Albright's hereditary osteodystrophy is a form of osteodystrophy,[1] due to pseudohypoparathyroidism the body's refusal of parathyroid hormone.[2]

Signs/symptoms[edit]

Choroid plexus(bottom left)

The disorder is characterized by the following:[2]

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]

In terms of the genetics of this condition, we find that it 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]

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 tubular cells don't expresses paternal only maternal alleles(variant form of a gene).[5][6][7]

Diagnosis[edit]

The diagnosis of Albright's hereditary osteodystrophy is based on the following exams below:[8]

Treatment[edit]

(Levo)thyroxine

In regards to the treatment of Albright's hereditary osteodystrophy one finds that should thyroid stimulating hormone prove ineffective then thyroxine is an alternative.Those individuals with hypercalciuria should be given intravenous calcium[9][10]

History[edit]

The disorder bears the name of Fuller Albright, who characterized it in 1942.[11] 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.[12]

See also[edit]

References[edit]

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 657. ISBN 1-4160-2999-0. 
  2. ^ a b "Albright's hereditary osteodystrophy | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 9 February 2017. 
  3. ^ 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. 
  4. ^ Kottler, Marie (2004). "Alpha hereditary Osteodystrophy" (PDF). Orphanet. 
  5. ^ "OMIM Entry - # 103580 - PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A". omim.org. Retrieved 12 February 2017. 
  6. ^ Cooper, Geoffrey M. (1 January 2000). "Pathways of Intracellular Signal Transduction". Retrieved 12 February 2017. 
  7. ^ Reference, Genetics Home. "What is a gene?". Genetics Home Reference. Retrieved 2017-02-12. 
  8. ^ "Pseudohypoparathyroidism: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 12 February 2017. 
  9. ^ "Pseudohypoparathyroidism: Background, Pathophysiology, Etiology". 2017-01-06. 
  10. ^ Disorders, National Organization for Rare (2003). NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. p. 326. ISBN 9780781730631. Retrieved 12 February 2017. 
  11. ^ 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.
  12. ^ 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]