title: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: report of three Turkish siblings.
abstract: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), an autosomal recessive renal tubular disorder is characterized by the impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of the loop of Henle. This disease is caused by mutations in the claudin-16 gene (CLDN16), which encodes the tight junction protein, claudin-16. Claudin-16 belongs to the claudin family and regulates the paracellular transport of magnesium and calcium. Here, we report on three Turkish siblings with typical clinical features of FHHNC in association with the homozygous mutation Leu151Phe.
authors.affiliation: Department of Pediatric Nephrology, Meram Medical Faculty, Selcuk University, 42080 Konya, Turkey. harunperu@gmail.com
authors.forename: Harun
authors.initials: H
authors.lastname: Peru
authors.forename: Fatih
authors.initials: F
authors.lastname: Akin
authors.forename: Sefika
authors.initials: S
authors.lastname: Elmas
authors.forename: Ahmet Midhat
authors.initials: AM
authors.lastname: Elmaci
authors.forename: Martin
authors.initials: M
authors.lastname: Konrad
mesh_terms: D002648:Child; D019343:Citric Acid / Q000627:therapeutic use; D057167:Claudins; D006720:Homozygote; D006801:Humans; D053565:Hypercalciuria / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D007223:Infant; D008274:Magnesium / Q000378:metabolism*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009397:Nephrocalcinosis / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009942:Organometallic Compounds / Q000627:therapeutic use; D015499:Renal Tubular Transport, Inborn Errors / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D035781:Siblings; D049993:Sodium Chloride Symporter Inhibitors / Q000627:therapeutic use; D016896:Treatment Outcome; D014421:Turkey
chemical_list: D057167:Claudins; D008565:Membrane Proteins; D009942:Organometallic Compounds; D049993:Sodium Chloride Symporter Inhibitors; C502010:claudin 16; D019343:Citric Acid; D008274:Magnesium; C110422:magnesium citrate