- 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.
Medical dictionary. 2011.
Look at other dictionaries:
HDR-синдром — Barakat syndrome OMIM 146255 146255 HDR синдром (англ. Barakat syndrome) аутосомно доминантное заболевание, проявляющееся сочетанием гипопаратиреоидизма, глухоты и дисплазии почек, вызванное дефектом гена GATA3, локализованного в… … Википедия
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… … Medical dictionary
Barakat syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD9 = ICDO = OMIM = 146255 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Barakat syndrome, also known as HDR syndrome, was first described by Dr Amin Barakat et al in 1977 … Wikipedia
HevyDevy Records — infobox record label founded = 1996 (approx) genre = Progressive metal, Ambient, Industrial metal, Extreme metal country = Canada url = [http://www.hevydevy.com/ www.hevydevy.com] About HDRHevyDevy Records (also known as HDR) is a Canadian record … Wikipedia
New Zealand — This article is about the country. For other uses, see New Zealand (disambiguation). NZ redirects here. For other uses, see NZ (disambiguation). New Zealand Aotearoa … Wikipedia
GATA3 — GATA binding protein 3, also known as GATA3, is a human gene.cite web | title = Entrez Gene: GATA3 GATA binding protein 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=2625| accessdate = ] PBB Summary… … Wikipedia
Pediatrie — Pédiatrie Enfant lors d un examen (polysomnogramme) … Wikipédia en Français
Pédiatre — Pédiatrie Enfant lors d un examen (polysomnogramme) … Wikipédia en Français
Pédiatrique — Pédiatrie Enfant lors d un examen (polysomnogramme) … Wikipédia en Français
Hungary — This article is about the European country. For other uses, see Hungary (disambiguation). Republic of Hungary Magyar Köztársaság … Wikipedia