title: Paracellin-1 gene mutation with multiple congenital abnormalities.
abstract: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive renal tubular disorder characterized by renal magnesium wasting, hypercalciuria, advanced nephrocalcinosis and progressive renal failure. Mutations in the paracellin-1 (CLDN16) gene have been defined as the underlying genetic defect. The tubular disorders and progression in renal failure are usually resistant to magnesium substitution and hydrochlorothiazide therapy, but hypomagnesemia may improve with advanced renal insufficiency. We present a patient with a homozygous truncating CLDN16 gene mutation (W237X) who had early onset of renal insufficiency despite early diagnosis at 2 months. He also had additional abnormalities including horseshoe kidney, neonatal teeth, atypical face, cardiac abnormalities including coarctation of the aorta associated with atrial and ventricular septal defects, umbilical hernia and hypertrichosis. To the best of our knowledge, this is the youngest case diagnosed as familial hypomagnesemia with hypercalciuria and nephrocalcinosis and the first case having such additional congenital abnormalities independent of the disease itself.
authors.affiliation: Faculty of Medicine, Department of Pediatrics, Dokuz Eylül University, Izmir, Turkey.
authors.forename: Mehmet
authors.initials: M
authors.lastname: Türkmen
authors.forename: Belde
authors.initials: B
authors.lastname: Kasap
authors.forename: Alper
authors.initials: A
authors.lastname: Soylu
authors.forename: Ece
authors.initials: E
authors.lastname: Böber
authors.forename: Martin
authors.initials: M
authors.lastname: Konrad
authors.forename: Salih
authors.initials: S
authors.lastname: Kavukçu
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D057167:Claudins; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000235:genetics*; D053579:Gitelman Syndrome / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009397:Nephrocalcinosis / Q000235:genetics; D051437:Renal Insufficiency / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*
chemical_list: D057167:Claudins; D008565:Membrane Proteins; C502010:claudin 16