title: [Familial hypocalciuric hypercalcemia].
abstract: BACKGROUND
  Familial hypocalciuric hypercalcemia is often considered but rarely proved during evaluation for hypercalcemia. The disorder is characterized by lifelong persisting hypercalcemia and hypocalciuria.
  
  
  METHODS
  In this study, the authors analyzed a 25-yr-old Hungarian woman with mild hypercalcemia detected by routine laboratory testing. Evaluation revealed hypercalcemia, relative hypocalciuria and non-suppressed serum intact parathormone level. The diagnosis of hypocalciuric hypercalcemia was confirmed by the low ratio of calcium clearance/creatinine clearance. Genetic studies for calcium-sensing receptor gene mutations were performed in blood DNA samples. After polymerase chain reaction amplification, DNA sequencing of exons 2-7 were performed. The proband and her father had the same mutation (CCG-->CTG) at codon 55 of exon 2, leading to a conversion of the proline to a leucine.
  
  
  CONCLUSIONS
  This case report presents the first case of familial hypocalciuric hypercalcemia, published in a Hungarian patient.
authors: Semmelweis Egyetem, Altalános Orvostudományi Kar, II. Belgyógyászati Klinika, Budapest.
authors: Miklós
authors: M
authors: Tóth
authors: Gábor
authors: G
authors: Speer
authors: Attila
authors: A
authors: Patócs
authors: Dániel
authors: D
authors: Salamon
authors: Péter
authors: P
authors: Lakatos
authors: Károly
authors: K
authors: Rácz
authors: Zsolt
authors: Z
authors: Tulassay
mesh_terms: D000328:Adult; D002118:Calcium / Q000097:blood / Q000652:urine*; D005260:Female; D006579:Heterozygote; D006801:Humans; D006934:Hypercalcemia / Q000097:blood / Q000235:genetics* / Q000378:metabolism*; D007930:Leucine / Q000235:genetics; D011392:Proline / Q000235:genetics; D044169:Receptors, Calcium-Sensing / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D044169:Receptors, Calcium-Sensing; D011392:Proline; D007930:Leucine; D002118:Calcium