Albright's hereditary osteodystrophy

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Albright's hereditary osteodystrophy
Autosomal dominant - en.svg
Albright's hereditary osteodystrophy has an autosomal dominant pattern of inheritance
Specialty Endocrinology   OOjs UI icon edit-ltr-progressive.svg
Symptoms Choroid plexus calcification, Full cheeks [1]
CausesGs alpha subunit deficiency [2]
Diagnostic method calcium, phosphorus, PTH, Urine test for phosphorus and cyclic AMP
TreatmentPhosphate binders, supplementary calcium [3]
Named after Fuller Albright

Albright's hereditary osteodystrophy is a form of osteodystrophy, [4] 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]

Contents

Signs and symptoms

Choroid plexus(bottom left) Gray708.png
Choroid plexus(bottom left)

The disorder is characterized by the following: [1]

Individuals with Albright hereditary osteodystrophy exhibit short stature, characteristically shortened fourth and fifth metacarpals, rounded facies, and often mild intellectual deficiency. [5]

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). [6] [7] [8]

Diagnosis

The diagnosis of Albright's hereditary osteodystrophy is based on the following exams below: [9]

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. [3]

History

The disorder bears the name of Fuller Albright, who characterized it in 1942. [12] 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. [13]

See also

References

PD-icon.svgThis article incorporates text in the public domain from page 798 of the 20th edition of Gray's Anatomy (1918)

  1. 1 2 3 "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. 1 2 Kottler, Marie (2004). "Alpha hereditary Osteodystrophy" (PDF). Orphanet. Archived (PDF) from the original on 2021-04-26. Retrieved 2017-02-12.
  3. 1 2 Kliegman, Robert (2016). Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier. pp. chap 572. ISBN   978-1-4557-7566-8.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ "OMIM Entry - # 103580 - PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A". omim.org. Archived from the original on 18 January 2017. Retrieved 12 February 2017.
  7. ↑ Cooper, Geoffrey M (2000). "Pathways of Intracellular Signal Transduction". Sinauer Associates. Archived from the original on 2018-04-05. Retrieved 2024-06-26.
  8. ↑ Reference, Genetics Home. "What is a gene?". Genetics Home Reference. Archived from the original on 2020-05-16. Retrieved 2017-02-12.
  9. ↑ "Pseudohypoparathyroidism: MedlinePlus Medical Encyclopedia". medlineplus.gov. Archived from the original on 13 February 2017. Retrieved 12 February 2017.
  10. ↑ "Pseudohypoparathyroidism". Archived from the original on 2017-02-13. Retrieved 2017-02-12.
  11. ↑ Tze, W. J.; Saunders, J.; Drummond, G. I. (1975). "Urinary 3'5' cyclic AMP. Diagnostic test in pseudohypoparathyroidism". Arch Dis Child. 50 (8): 656–658. doi:10.1136/adc.50.8.656. PMC   1545541 . PMID   173244.
  12. ↑ 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.
  13. ↑ 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.

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