title: Five years results after intrafamilial kidney post-transplant in a case of familial hypomagnesemia due to a claudin-19 mutation.
abstract: BACKGROUND
  Familial Hypomagnesaemia with hypercalciuria and nephrocalcinosis, with severe ocular impairment secondary to claudin-19 mutation, is a rare recessive autossomic disorder. Its spectrum includes renal Mg2+ wasting, medullary nephrocalcinosis and progressive chronic renal failure in young people.
  
  
  OBJECTIVE
  To report a case of kidney transplantation father to daughter in a familial occurrence of severe bilateral nephrocalcinosis associated with ocular impairment in a non-consanguineous Brazilian family, in which two daughters had nephrocalcinosis and severe retinopathy.
  
  
  METHODS
  The index case, a 19 years-old female, had long-lasting past medical history of recurrent urinary tract infections, and the abdominal X-ray revealed bilateral multiple renal calcifications as well as ureteral lithiasis, and she was under haemodialysis. She had the diagnosis of retinitis pigmentosa in the early neonatal period. The other daughter (13 years-old) had also nephrocalcinosis with preserved kidney function, retinopathy with severe visual impairment, and in addition, she exhibited hypomagnesaemia = 0.5 mg/dL and hypercalciuria. The other family members (mother, father and son) had no clinical disease manifestation. Mutation analysis at claudin-19 revealed two heterozygous missense mutations (P28L and G20D) in both affected daughters. The other family members exhibited mutant monoallelic status. In despite of that, the index case underwent intrafamilial living donor kidney transplantation (father).
  
  
  CONCLUSIONS
  In conclusion, the disease was characterized by an autosomal recessive compound heterozygous status and, after five years of donation the renal graft function remained stable without recurrence of metabolic disturbances or nephrocalcinosis. Besides, donor single kidney Mg2+ and Ca2+ homeostasis associated to monoallelic status did not affect the safety and the usual living donor post-transplant clinical course.
authors.affiliation: Universidade Federal Fluminense.
authors.forename: Jorge Reis
authors.initials: JR
authors.lastname: Almeida
authors.affiliation: Universidade Federal Fluminense.
authors.forename: Gabriel de Almeida
authors.initials: Gde A
authors.lastname: Machado
authors.affiliation: Universidade Federal Fluminense.
authors.forename: Márcia Maria Guimarães
authors.initials: MM
authors.lastname: dos Santos
authors.affiliation: Universidade Federal Fluminense.
authors.forename: Patricia de Fátima
authors.initials: Pde F
authors.lastname: Lopes
authors.affiliation: Universidade Federal Fluminense.
authors.forename: Jorge Paulo Strogoff
authors.initials: JP
authors.lastname: de Matos
authors.affiliation: Hospital dos Servidores do Estado do Rio de Janeiro.
authors.forename: Aderbal Cypriano
authors.initials: AC
authors.lastname: Neves
authors.affiliation: Universidade Federal Fluminense.
authors.forename: Jocemir Ronaldo
authors.initials: JR
authors.lastname: Lugon
mesh_terms: D057167:Claudins / Q000235:genetics*; D015785:Eye Diseases, Hereditary / Q000235:genetics* / Q000601:surgery*; D005190:Family; D005260:Female; D006801:Humans; D016030:Kidney Transplantation; D009154:Mutation; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics* / Q000601:surgery*; D013997:Time Factors; D014019:Tissue Donors; D055815:Young Adult
chemical_list: C508912:CLDN19 protein, human; D057167:Claudins