نتایج جستجو برای: hypoparathyroidism
تعداد نتایج: 1751 فیلتر نتایج به سال:
BACKGROUND Hypoparathyroidism is characterised by hypocalcaemia, and standard management is with an active vitamin D analogue and adequate oral calcium intake (dietary and/or supplements). Little is described in the literature about the impact of intercurrent illnesses on calcium homeostasis in children with hypoparathyroidism. METHODS We describe three children with hypoparathyroidism in who...
BACKGROUND Idiopathic hypoparathyroidism is an extremely rare endocrinal disorder with a prevalence of 37 per 100,000. Herein we presented a case of a 30-year-old male who came with symptoms of muscle weakness, carpopedal spasms and limitation of movement which gradually progressed over 8 years. CASE REPORT A 30-year-old male patient presented in an outpatient department of a tertiary care ce...
BACKGROUND Autoimmune polyendocrine syndrome type 1 (APS-1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. Though recent studies concerning AIRE deficiency have begun to elucidate the molecular pathogenesis of organ-specific autoimmunity in patients with APS-1, the autoantigen responsible for hypoparathyroidism, a hallmark of APS-1 and its most c...
purpose : to report a rare case of a patient with hypoparathyroidism presenting with bilateral disc swelling and near mature cataract as her first clinical manifestation case report : a 23-year-old woman presented with complaint of worsening vision since one year ago and a history of refractory seizures and headache for several years, being under treatment with lamotrigine 50 mg/daily. slit-lam...
Hypoparathyroidism is associated with chronic hypocalcaemia which can have a variety of manifestations including cardiovascular changes. We describe here a case of primary hypoparathyroidism associated with systolic dysfunction of left ventricle presenting as a dilated cardiomyopathy in addition to other manifestations.
Sanjad-Sakati Syndrome, also referred to as Hypoparathyroidism-Retardation-Dysmorphism Syndrome or Middle East was first reported in Saudi Arabia 1988 and later a definitive report by (Sanjad et al.) 1991. It is rare autosomal recessive condition almost exclusively the Arab population. The characterized an extensive array of symptoms, including congenital hypoparathyroidism, severe growth devel...
We describe a hemodialysis patient with hypoparathyroidism due to HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome caused by GATA3 mutation. She presents tumoral calcinosis which is a rare complication of end-stage renal failure. A novel mutation of GATA3 is identified in this patient.
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