Albright's hereditary osteodystrophy

 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
Synonyms
Pronounce
Field
Symptoms	Choroid plexus calcification, Full cheeks<ref name=nih/>
Complications
Onset
Duration
Types
Causes	Gs alpha subunit deficiency<ref name=or/>
Risks
Diagnosis	CBC, Urine test<ref name=medl/>
Differential diagnosis
Prevention
Treatment	Phosphate binders, supplementary calcium <ref name=nel/>
Medication
Prognosis
Frequency
Deaths

Albright's hereditary osteodystrophy is a form of osteodystrophy,<ref name="Bolognia">,

 Dermatology: 2-Volume Set, 
  
 St. Louis:Mosby, 
 2007, 
  
  
 ISBN 978-1-4160-2999-1, 
  
  
  
 Pages: 657,</ref> and is classified as the phenotype of pseudohypoparathyroidism type 1A; this is a condition in which the body does not respond to parathyroid hormone.<ref 

name="nih">

Albright's hereditary osteodystrophy(link). {{{website}}}. Genetic and Rare Diseases Information Center (GARD) – an NCATS Program.

</ref>

Signs and symptoms

The disorder is characterized by the following:<ref name=nih/>

• Hypogonadism
• Brachydactyly syndrome
• Choroid plexus calcification
• Hypoplasia of dental enamel
• Full cheeks
• Hypocalcemic tetany

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.<ref name="pmid16116826">,

 Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1, 
 Acta Biomed, 
 
 Vol. 76(Issue: 1),
 pp. 45–8,
 
 PMID: 16116826,</ref> 

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.<ref name="or"> Kottler, Marie. Alpha hereditary Osteodystrophy(link). Orphanet.

2004.

</ref>

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).<ref>

OMIM Entry - # 103580 - PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A(link). omim.org.

</ref><ref>,

 Pathways of Intracellular Signal Transduction, 
 , 
 
 
 
 
 
 
 
 Full text,</ref><ref>

Reference, Genetics Home. What is a gene?(link). Genetics Home Reference.

Accessed 2017-02-12.

</ref>

Diagnosis

Complete blood count

The diagnosis of Albright's hereditary osteodystrophy is based on the following exams below:<ref name="medl">

Pseudohypoparathyroidism: MedlinePlus Medical Encyclopedia(link). medlineplus.gov.

</ref>

• CBC
• Urine test
• MRI

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.<ref name="nel">Robert,

 Nelson Textbook of Pediatrics. 20th ed., 
  
 Philadelphia, PA:Elsevier, 
 2016, 
  
  
 ISBN 978-1-4557-7566-8, 
  
  
  
 Pages: chap 572,</ref>

History

The disorder bears the name of Fuller Albright, who characterized it in 1942.<ref>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.</ref> 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.<ref>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.</ref>

See also

• Pseudopseudohypoparathyroidism

Further reading

• ,

 Genetics of Bone Biology and Skeletal Disease. online version, 
  
 Academic Press, 
  
  
  
 ISBN 9780123878304,

• ,

 The Washington Manual Endocrinology Subspecialty Consult. online version, 
  
 Lippincott Williams & Wilkins, 
  
  
  
 ISBN 9780781791540,

External links

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