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hypoparathyroidism/ripuli
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Sivu 1 alkaen 23 tuloksia
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia.
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McKusick type metaphyseal chondrodysplasia, or cartilage hair hypoplasia (CHH), is a rare autosomal recessive osteochondrodysplasia secondary to a mutation in the RMRP gene. In addition to the metaphyseal chondrodysplasia and the short-limb dwarfism, patients may present with a multisystemic
[Hypoparathyroidism in hypomagnesemia].
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Tetany was observed in a 18 months old girl, suffering from severe diarrhea. Even continuous iv calcium administration did not prevent tetanic spasms. Further evaluation revealed hypomagnesemia, hypocalcemia, and functional hypoparathyroidism. Administration of MgSO4 normalized serum levels of Mg
Milk-alkali syndrome (MAS) as a complication of the treatment of hypoparathyroidism - a case study.
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Milk-alkali syndrome (MAS), characterized by renal failure, metabolic alkalosis and hypercalcemia, is a severe and life-threatening complication of the treatment of hypoparathyroidism. The clinical course is often sudden and is not preceded by any prodromal symptoms. Occurrence does not depend on
Hypoparathyroidism and co-existing celiac disease.
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A 62-yr-old woman with idiopathic hypoparathyroidism was admitted to our hospital for severe anemia (Hb 5.6 gr/dl) and hypoalbuminemia (3.2 gr/dl). Hypoparathyroidism was diagnosed when she was 33 yr old, because of repeated hypocalcemic tetanic crises, low calcium and high phosphate levels. Since
[Fabry's disease and hypoparathyroidism].
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BACKGROUND
Fabry's disease is due to alpha-galactosidase deficiency. This rare lysosomal storage disease is transmitted by recessive X-linked heredity. Sphingolipids (galactosyl-glucosyl-ceramide) accumulate in many organs.
METHODS
A 19-year-old man with known hypoparathyroidism presented with
Idiopathic hypoparathyroidism with impaired vitamin B 12 absorption and neuropathy.
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A 68-year-old man presenting with chronic intermittent diarrhea and progressive ataxia was found to have idiopathic hypoparathyroidism. Intrinsic factor-resistant vitamin B(12) malabsorption was demonstrated. Both the diarrhea and vitamin malabsorption were reversed by correction of hypocalcemia.His
Immunologic reconstitution in the DiGeorge syndrome by fetal thymic transplant.
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An infant with idiopathic hypoparathyroidism was found to have no evidence of thymus by radiologic examinations, including pneumomediastinum. Immunoglobulin concentrations were normal but there was clear evidence of inadequate cellular immunity including gradually developing lymphopenia. The infant
Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype.
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Kenny Caffey syndrome (KCS) is a rare syndrome reported almost exclusively in Middle Eastern populations. It is characterized by severe growth retardation-short stature, dysmorphic features, episodic hypocalcaemia, hypoparathyroidism, seizures, and medullary stenosis of long bones with thickened
Primary hypomagnesemia caused by isolated magnesium malabsorption: atypical case in adult.
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Isolated magnesium malabsorption is a rare disorder, which bas been described in no more than 30 patients worldwide. Patients with this disorder typically present with convulsion and diarrhea in early infancy. Hypomagnesemia and hypocalcemia were found in a 35-year-old man with muscle cramps, who
Juvenile autoimmune polyendocrinopathy.
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Juvenile autoimmune polyendocrinopathies are characterized by the coexistence of hypoparathyroidism, chronic candidiasis and adrenal insufficiency. This is in contrast with associated autoimmune endocrine diseases in the adult. Gonadal insufficiency is frequently encountered as well. Some other
Impetigo herpetiformis occurring during N-butyl-scopolammonium bromide therapy in pregnancy: case report.
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Impetigo herpetiformis (IH) is a rare dermatosis arising during the third trimester of pregnancy which is generally considered as a form of pustular psoriasis of unknown aetiology. Clinically it is characterized by erythematous plaques surrounded by sterile pustules associated with fever, diarrhea,
Occurrence of overt celiac disease in the elderly following total thyroidectomy.
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We report the case of a female patient in whom gluten-induced entheropathy was revealed at the age of 71 yr by resistance to treatment with levothyroxine (L-T4), calcium carbonate and alfacalcidol. Hypothyroidism and hypoparathyroidism were the consequence of a total thyroidectomy performed at the
Hypomagnesemia, hypocalcemia, and toxic-shock syndrome. A case report.
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Hypocalcemia is common in toxic-shock syndrome (TSS); however, the role of magnesium deficiency in TSS remains to be defined. A previously healthy nurse on no maintenance medication developed hypocalcemia and hypomagnesemia in association with characteristic TSS, presenting with fever, headache,
APECED syndrome in childhood: clinical spectrum is enlarging.
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Autoimmune polyendocrinopathy-candidiasis-ectodermal-distrophy (APECED) is a rare autosomal recessive disease, which is mainly characterized by the association of many autoimmune diseases, with a classic triad including chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical
StatPearls
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Electrolytes are essential for basic life functioning such as maintaining electrical neutrality in the cells, generation, and conduction of action potentials in the nerves and muscles. Sodium, potassium, and chloride are the significant electrolytes along with magnesium, calcium, phosphate, and
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