Albright's hereditary osteodystrophy
- Albright's hereditary osteodystrophy
Infobox_Disease
Name = PAGENAME
Caption =
DiseasesDB = 10835
ICD10 = ICD10|E|20|1|e|20
ICD9 = ICD9|275.49
ICDO =
OMIM = 103580
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D005359
Albright hereditary osteodystrophy (or Martin-Albright syndrome) is form of osteodystrophy, otherwise known as Pseudohypoparathyroidism type 1a.
Due to genetic imprinting, 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. [cite journal |pmid=6278930 |year=1982 |month=Jan |author=Fitch N |title=Albright's hereditary osteodystrophy: a review |volume=11 |issue=1 |pages=11-29 |doi=10.1002/ajmg.1320110104 |journal=American journal of medical genetics |url=http://toxnet.nlm.nih.gov/cgi-bin/sis/search/r?dbs+hsdb:@term+@na+CALCIUM+COMPOUNDS |format=Free full text]
Eponym
The disorder bears the name of Fuller Albright, who was also responsible for characterizing Albright syndrome as well as a number of other bone disorders.
Presentation
The disorder is characterized by a lack of renal responsiveness to parathyroid hormone, resulting in low serum calcium, high serum phosphate, and appropriately high serum parathyroid hormone. Patients with Albright hereditary osteodystrophy have short stature, characteristically shortened fourth and fifth metacarpals, and rounded facies.
Albright 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 hypocalcemia.
See also
* Brachydactyly mental retardation syndrome, a similar disease.
External links
* [http://www.moldiag.com/en/dis/albrightosteodystrophy.htm Laboratory for Molecular Diagnostics, Center for Nephrology and Metabolic Disorders]
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References
Wikimedia Foundation.
2010.
Look at other dictionaries:
Albright's hereditary osteodystrophy — the skeletal abnormalities, collectively, of pseudohypoparathyroidism type 1. These include short stature, abnormally short fingers and toes (particularly involving the fourth and fifth metacarpals and metatarsals), and soft tissue calcification … Medical dictionary
Albright's hereditary osteodystrophy — the skeletal abnormalities, collectively, of pseudohypoparathyroidism type 1. These include short stature, abnormally short fingers and toes (particularly involving the fourth and fifth metacarpals and metatarsals), and soft tissue calcification … The new mediacal dictionary
Albright hereditary osteodystrophy syndrome — Al·bright hereditary osteodystrophy, syndrome (awlґbrīt) [Fuller Albright, American physician and endocrinologist, 1900–1969] see pseudohypoparathyroidism and see under syndrome … Medical dictionary
osteodystrophy — Defective formation of bone. SYN: osteodystrophia. [osteo + G. dys, difficult, imperfect, + trophe, nourishment] Albright hereditary o. an inherited form of hyperparathyroidism associated with ectopic … Medical dictionary
osteodystrophy — n. any generalized bone disease resulting from a metabolic disorder. In renal osteodystrophy chronic kidney failure leads to diffuse bone changes resulting from osteomalacia, secondary hyperparathyroidism (excessive secretion of parathyroid… … The new mediacal dictionary
Albright hereditary osteodystrophy — pseudohypoparathyroidism … Medical dictionary
Albright — Fuller, U.S. physician, 1900–1969. See A. disease, A. syndrome, A. hereditary osteodystrophy, Forbes A. syndrome, McCune A. syndrome … Medical dictionary
McCune–Albright syndrome — McCune Albright syndrome Classification and external resources Café au lait skin pigmentation. A) A typical lesion on the face, chest, and arm of a 5 year old girl with McCune Albright syndrome which demonstrates jagged coast of Maine borders,… … Wikipedia
Osteodystrophy — Classification and external resources ICD 10 Q78.9 ICD 9 756.50 … Wikipedia
Hereditary multiple exostoses — Classification and external resources Photograph of the legs of a 26 year old male showing multiple lumps leading to deformity. ICD 10 Q … Wikipedia
