enal dysplasia. Inherited as an autosomal dominant
trait, the syndrome is caused by haploinsufficiency of the GATA3 gene in chromosome
10p.
T he 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.
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