MEDICAL DICTIONARY
HDR syndrome: The syndrome of familial Hypoparathyroidism , sensorineural Deafness , and Renal dysplasia . Inherited as an autosomal dominant trait , the syndrome is caused by haploinsufficiency of the GATA3 gene in chromosome 10p.
The hypoparathyroidism causes hypocalcemia (a low level of calcium in blood) and lifelong fatigue and depression . The deafness is congenital (present at birth). The kidney dysplasia (malformations) can lead to nephrosis and progressive renal failure. Some patients have micrognathia (small chin) and no teeth.
Haploinsufficiency is caused by changes in the GATA3 gene that render it physically or functionally inactive. These changes include deletions, some of them large enough to be detected under the microscope, and point mutations of a single nucleotide base in GATA3.
The GATA3 gene appears essential to the embryonic development of the ears, parathyroid glands, and kidneys.
Diagnosis of this syndrome (as with many diseases) can make a great difference in a patient's life. (Sometimes seemingly difficult diagnoses need simple treatments.) Supplemental calcium and calcidiol (vitamin D) can increase the calcium, relieve the fatigue and depression (and transform the quality of life ) for the patient.
|
DISCLAIMER:
Information on this site is provided for informational
purposes and is not meant to substitute for the advice
provided by your own physician or other medical professional.
You should not use the information contained herein
for diagnosing or treating a health problem or disease,
or prescribing any medication. You should read carefully
all product packaging. Not all Canadian drugs, Canada
prescription and Canadian prescription medicine is available
at discount Canadian on line pharmacies. If you have
or suspect that you have a medical problem, promptly
contact your health care provider. Information and statements
regarding diet supplements have not been evaluated by
Health Canada and are not intended to diagnose, treat,
cure, or prevent any disease. All trade and service
marks mentioned on this site are recognized as belonging
to their respective owners.
|
|
|
|
