title: Vitamin D deficiency in a patient with HDR syndrome.
abstract: 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.
authors.affiliation: Department of Endocrinology, Red Cross Hospital, Athens, Greece.
authors.forename: Ifigenia
authors.initials: I
authors.lastname: Kostoglou-Athanassiou
authors.affiliation: Department of Endocrinology, Red Cross Hospital, Athens, Greece.
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Stefanopoulos
authors.affiliation: Department of Endocrinology, Red Cross Hospital, Athens, Greece.
authors.forename: Areti
authors.initials: A
authors.lastname: Karfi
authors.affiliation: Department of Rheumatology, St. Paul's Hospital, Thessaloniki, Greece.
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Athanassiou
mesh_terms: D002125:Calcium Gluconate / Q000008:administration & dosage; D005440:Fluid Therapy; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D007668:Kidney / Q000002:abnormalities; D008297:Male; D008875:Middle Aged; D009401:Nephrosis / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D051437:Renal Insufficiency / Q000175:diagnosis / Q000209:etiology*; D016896:Treatment Outcome; D014807:Vitamin D / Q000008:administration & dosage; D014808:Vitamin D Deficiency / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D014815:Vitamins / Q000008:administration & dosage
chemical_list: D014815:Vitamins; D014807:Vitamin D; D002125:Calcium Gluconate