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Albright's hereditary osteodystrophy

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Title: Albright's hereditary osteodystrophy  
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Subject: Inborn errors of metal metabolism, Hypoparathyroidism, Chromosome 20 (human), Cardiofaciocutaneous syndrome, Chylomicron retention disease
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Albright's hereditary osteodystrophy

Albright's hereditary osteodystrophy
Classification and external resources
ICD-10 E20.1
ICD-9-CM 275.49
OMIM 103580
DiseasesDB 10835

Albright’s hereditary osteodystrophy consists of a constellation of features including a form of osteodystrophy,[1] that occur in pseudohypoparathyroidism type 1a.

Contents

  • Characteristics 1
  • Genetics 2
  • Eponym 3
  • See also 4
  • References 5
  • External links 6

Characteristics

The disorder is characterized by a lack of responsiveness to parathyroid hormone,[2] resulting in low serum calcium, high serum phosphate, and appropriately high serum parathyroid hormone.

Individuals with Albright’s hereditary osteodystrophy have short stature, characteristically shortened fourth and fifth metacarpals, rounded facies, and often mild mental retardation.[3][4]

Albright’s hereditary osteodystrophy is commonly known as Pseudohypoparathyroidism because the kidney responds as if parathyroid hormone were absent. In fact, blood levels of parathyroid hormone are elevated in Pseudohypoparathyroidism due to the continued Hyperphosphatemia & Hypocalcemia.

Genetics

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

It is associated with epigenetic genetic imprinting.[5] Because of this the disease can occur when a mother with mild clinical symptoms or a de novo mutation of the maternal allele passes it to her offspring.

It is believed to be inherited in an autosomal dominant pattern.[6]

It is associated with a Gs alpha subunit deficiency.[7]

Eponym

The disorder bears the name of Fuller Albright, who characterized it in 1942.[8][9] He was also responsible for characterizing McCune-Albright syndrome as well as a number of other bone disorders.

He originally named it "Sebright Bantam syndrome", after the Sebright Bantam, which demonstrated an analogous hormone insensitivity.[10]

Much less commonly, the term "Martin-Albright syndrome" is used,[11] after the first author of a 1940 paper in a Swiss medical journal that may have described a case.[12][13]

See also

References

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 657.  
  2. ^ Namnoum AB, Merriam GR, Moses AM, Levine MA (March 1998). "Reproductive dysfunction in women with Albright's hereditary osteodystrophy". J. Clin. Endocrinol. Metab. 83 (3): 824–9.  
  3. ^ Online 'Mendelian Inheritance in Man' (OMIM) 103580
  4. ^ 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.  
  5. ^ de Nanclares GP, Fernández-Rebollo E, Santin I; et al. (June 2007). "Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy". J. Clin. Endocrinol. Metab. 92 (6): 2370–3.  
  6. ^ Fitch N; Opitz, John M.; Herrmann, JüRgen (January 1982). "Albright's hereditary osteodystrophy: a review" (Free full text). American journal of medical genetics 11 (1): 11–29.  
  7. ^ Patten JL, Johns DR, Valle D; et al. (May 1990). "Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy". N. Engl. J. Med. 322 (20): 1412–9.  
  8. ^ Wilson LC, Trembath RC (October 1994). "Albright's hereditary osteodystrophy" (PDF). J. Med. Genet. 31 (10): 779–84.  
  9. ^ Albright F, Burnett CH, Smith PH; et al. (1942). "Pseudo-hypoparathyroidism-example of 'Seabright-Bantam syndrome'; report of three cases". Endocrinology 30: 922–932. 
  10. ^ synd/164 at Who Named It?
  11. ^ Quist SR, Franke I, Hiort O, Gollnick HP, Leverkus M (January 2009). "First diagnosis of Martin-Albright syndrome in a 58-year-old patient". J Dtsch Dermatol Ges 7 (1): 43–5.  
  12. ^ synd/1654 at Who Named It?
  13. ^ Martin D, Bourdillon J (1940). "Un cas de tétanie idiopathique chronique. Échec thérapeutique de la graffe d’un adénome parathyroïdien". Revue médicale de la Suisse romande (Lausanne) 60: 1166–77. 

External links


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