Albright's hereditary osteodystrophy
Encyclopedia
Albright’s hereditary osteodystrophy is form of osteodystrophy
, otherwise known as Pseudohypoparathyroidism
type 1a.
, 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.
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.
It is associated with epigenetic genetic imprinting. 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.
It is associated with a Gs alpha subunit
deficiency.
He originally named it "Sebright Bantam syndrome", after the Sebright Bantam
, which demonstrated an analogous hormone insensitivity.
Much less commonly, the term "Martin-Albright syndrome" is used. This refers to Eric Martin
.
Osteodystrophy
Osteodystrophy is a general term for a dystrophic growth of the bone. It is defective bone development that is usually attributable to renal disease or to disturbances in calcium and phosphorus metabolism.One form is renal osteodystrophy....
, otherwise known as Pseudohypoparathyroidism
Pseudohypoparathyroidism
Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone. Patients have a low serum calcium and high phosphate, but the parathyroid hormone level is actually appropriately high...
type 1a.
Characteristics
The disorder is characterized by a lack of responsiveness to parathyroid hormoneParathyroid hormone
Parathyroid hormone , parathormone or parathyrin, is secreted by the chief cells of the parathyroid glands as a polypeptide containing 84 amino acids...
, resulting in low serum calcium, high serum phosphate, and appropriately high serum parathyroid hormone.
Individuals with Albright’s hereditary osteodystrophy have short stature
Short stature
Short stature refers to a height of a human being which is below expected. Shortness is a vague term without a precise definition and with significant relativity to context...
, characteristically shortened fourth and fifth metacarpals, rounded facies
Facies (medical)
In medical contexts, facies are distinctive facial expressions associated with specific medical conditions.It comes from the Latin word for "face".As a fifth declension noun, "facies" can refer to the singular or plural.-Types:Examples include:...
, and often mild mental retardation.
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
It is believed to be inherited in an autosomal dominant pattern.
It is associated with a Gs alpha subunit
Gs alpha subunit
The Gs alpha subunit is a heterotrimeric G protein subunit that activates the cAMP-dependent pathway by activating adenylate cyclase.-Receptors:The G protein-coupled receptors that couple to this kind of G-protein include:...
deficiency.
Eponym
The disorder bears the name of Fuller Albright, who characterized it in 1942. He was also responsible for characterizing Albright syndrome as well as a number of other bone disorders.He originally named it "Sebright Bantam syndrome", after the Sebright Bantam
Sebright (chicken)
The Sebright is a breed of chicken named after its developer, Sir John Saunders Sebright. The Sebright is one of the oldest recorded British 'true' bantam , created in the 19th century through a selective breeding program designed to produce an ornamental breed...
, which demonstrated an analogous hormone insensitivity.
Much less commonly, the term "Martin-Albright syndrome" is used. This refers to Eric Martin
Eric Martin
Eric Lee Martin is an American rock singer/musician active throughout the 1980s, 1990s, and 2000s both as a solo artist and as a member of various bands. He earned his most prominent success as the frontman for the hard rock/glam metal band Mr...
.
See also
- PseudopseudohypoparathyroidismPseudopseudohypoparathyroidismPseudopseudohypoparathyroidism is an inherited disorder, named for its similarity to pseudohypoparathyroidism in presentation...
, the syndrome of GNAS paternal inheritance which results in similar dismorphology but normal biochemistry. - Brachydactyly mental retardation syndrome, a similar disease.