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BMJ Case Rep ; 20152015 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-26156834

RESUMO

The case of a patient with clinical symptoms, laboratory and imaging findings of hypoparathyroidism, sensorineural deafness, renal dysplasia HDR, or Barakat syndrome (hypoparathyroidism, deafness, renal dysplasia), and vitamin D deficiency, is presented. A Caucasian man aged 51 years with a history of chronic hypocalcaemia since childhood, was admitted with hypertonia of the body and extremities, and loss of consciousness. On admission, he was found to have severe hypocalcaemia, hyperphosphataemia, severe hypoparathyroidism, low serum magnesium and mild renal insufficiency. Calcium gluconate was administered intravenously supplemented with magnesium, and the patient recovered consciousness while clinical and laboratory findings improved. Evaluation revealed left renal aplasia and sensorineural deafness affecting both ears. Vitamin D deficiency was also present. He was given calcium and vitamin D supplements orally, and the hypocalcaemia was corrected. This case is described as it is an extremely rare case of HDR syndrome with concurrent vitamin D deficiency.


Assuntos
Perda Auditiva Neurossensorial/etiologia , Hipoparatireoidismo/etiologia , Nefrose/diagnóstico , Insuficiência Renal/etiologia , Deficiência de Vitamina D/complicações , Gluconato de Cálcio/administração & dosagem , Hidratação , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/tratamento farmacológico , Humanos , Hipoparatireoidismo/complicações , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/tratamento farmacológico , Rim/anormalidades , Masculino , Pessoa de Meia-Idade , Nefrose/complicações , Nefrose/tratamento farmacológico , Insuficiência Renal/diagnóstico , Resultado do Tratamento , Vitamina D/administração & dosagem , Deficiência de Vitamina D/diagnóstico , Deficiência de Vitamina D/tratamento farmacológico , Vitaminas/administração & dosagem
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