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• W2000289982 abstract "No AccessJournal of UrologyPediatric Urology1 Mar 1996Family Pattern of Idiopathic Hypercalciuria and its Subtypes Polyxeni Nicolaidou, Sofia Themeli, Themistoklis Karpathios, Helen Georgouli, Korina Athanassaki, Athina Xaidara, and John Messaritakis Polyxeni NicolaidouPolyxeni Nicolaidou More articles by this author , Sofia ThemeliSofia Themeli More articles by this author , Themistoklis KarpathiosThemistoklis Karpathios More articles by this author , Helen GeorgouliHelen Georgouli More articles by this author , Korina AthanassakiKorina Athanassaki More articles by this author , Athina XaidaraAthina Xaidara More articles by this author , and John MessaritakisJohn Messaritakis More articles by this author View All Author Informationhttps://doi.org/10.1016/S0022-5347(01)66386-9AboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract Purpose: We determined the mode of inheritance of idiopathic hypercalciuria and its subtypes. Materials and Methods: We evaluated 40 children with symptomatic idiopathic hypercalciuria and 129 of their first-degree relatives (80 parents and 49 siblings). In hypercalciuric individuals in families with at least 2 affected members the type of idiopathic hypercalciuria was determined by the calcium loading test. Results: Of the 40 affected children 19 (47.5 percent) had 1 or more affected first-degree relatives (23 of 80 parents and 2 of 49 siblings). In all 44 affected members of the 19 hypercalciuric families (19 index cases, 23 parents and 2 siblings) the type of idiopathic hypercalciuria was determined (absorptive in 38 and renal in 6). Study of the pedigree of the 19 families showed that idiopathic hypercalciuria appears to be transmitted as an autosomal dominant trait. With only 1 exception the subtype of disease was specific for members of the same family. Conclusions: Idiopathic hypercalciuria has a familial or sporadic pattern. In the familial pattern an autosomal dominant inheritance is present. The type of the disease is identical in affected members of the same family. The absorptive subtype is more frequent. References 1 : Hypercalciuria in clinical pediatrics. A review. Clin. Ped.1984; 23: 135. Google Scholar 2 : Idiopathic hypercalciuria in children: prevalence and metabolic characteristics. J. Ped.1978; 92: 906. Google Scholar 3 : Hypercalciuria in children with urolithiasis. Amer. J. Dis. Child.1982; 136: 675. Google Scholar 4 : Idiopathic hypercalciuria in children. Classification, clinical manifestations and outcome. Acta Ped. Scand.1987; 76: 271. Google Scholar 5 : Hypercalciuria in the frequency-dysuria syndrome of childhood. J. Ped.1990; 116: 103. Google Scholar 6 : A consideration of the hormonal basis and phosphate leak hypothesis of absorptive hypercalciuria. J. Clin. Endocr. Metab.1984; 58: 161. Google Scholar 7 : Families of children with hypercalciuria. Evidence for the hormonal basis of familial hypercalciuria. Amer. J. Dis. Child.1985; 139: 621. Google Scholar 8 : Increased serum 1,25-dihydroxyvitamin D in idiopathic hypercalciuria. J. Lab. Clin. Med.1977; 90: 955. Google Scholar 9 : Studies on intestinal calcium absorption in patients with idiopathic hypercalciuria. Quart. J. Med.1984; 53: 69. Google Scholar 10 : Increased serum concentrations of 1,25(OH) sub 2 vitamin D in children with fasting hypercalciuria. J. Ped.1987; 110: 234. Google Scholar 11 : Familial idiopathic hypercalciuria. New Engl. J. Med.1979; 300: 337. Google Scholar 12 : Autosomal dominant inheritance of hypercalciuria. Eur. J. Ped.1980; 133: 239. Google Scholar 13 : Familial idiopathic hypercalciuria. Turk. J. Ped.1988; 30: 145. Google Scholar 14 : Familial absorptive hypercalciuria in a large kindred. J. Urol.1981; 126: 717. Link, Google Scholar 15 : Family investigations in idiopathic hypercalciuria. Eur. J. Ped.1993; 152: 64. Google Scholar 16 : Idiopathic hypercalciuria in children: pathophysiologic considerations of renal and absorptive subtypes. J. Ped.1987; 110: 238. Google Scholar 17 : Idiopathic hypercalciuria in a child. Arch. Dis. Child.1964; 39: 409. Google Scholar 18 : Reference values for urinary calcium excretion and screening for hypercalciuria in children and adolescents. Eur. J. Ped.1984; 143: 25. Google Scholar 19 : Renal hypercalciuria and acidification defect in kidney stone patients. J. Urol.1989; 141: 813. Link, Google Scholar 20 : “Idiopathic” hypercalciuria: a renal form in inherited cases and an absorptive one in sporadic cases? Eur. J. Ped.1982; 138: 88. Google Scholar First Department of Pediatrics, Athens University and Second Pediatric Department, “P. & A. Kyriakou” Children's Hospital, Athens, Greece© 1996 by American Urological Association, Inc.FiguresReferencesRelatedDetailsCited byVezzoli G, Soldati L and Gambaro G (2018) Update on Primary Hypercalciuria From a Genetic PerspectiveJournal of Urology, VOL. 179, NO. 5, (1676-1682), Online publication date: 1-May-2008. Volume 155Issue 3March 1996Page: 1042-1044 Advertisement Copyright & Permissions© 1996 by American Urological Association, Inc.MetricsAuthor Information Polyxeni Nicolaidou More articles by this author Sofia Themeli More articles by this author Themistoklis Karpathios More articles by this author Helen Georgouli More articles by this author Korina Athanassaki More articles by this author Athina Xaidara More articles by this author John Messaritakis More articles by this author Expand All Advertisement PDF downloadLoading ..." @default.
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