title: Familial hypocalciuric hypercalcemia in the donor and recipient of a living related donor kidney transplant.
abstract: Familial hypocalciuric hypercalcemia (FHH) is caused by heterozygous inactivation of the calcium-sensing receptor, which is notably expressed in parathyroid and kidney. FHH is characterized by asymptomatic hypercalcemia and hypophosphatemia and confers minimal, if any, morbidity. Renal transplantation in patients with FHH has not been described previously. This report describes a patient with FHH who developed end-stage renal disease from another cause and subsequently received a living related donor kidney transplant from her FHH-affected daughter. The excellent posttransplant clinical course of both recipient and donor is emphasized.
authors.affiliation: Division of Nephrology, Department of Medicine, Duke University Medical Center, Durham, NC, USA. novak005@mc.duke.edu
authors.forename: J E
authors.initials: JE
authors.lastname: Novak
authors.forename: D W
authors.initials: DW
authors.lastname: Butterly
authors.forename: D M
authors.initials: DM
authors.lastname: Desai
authors.forename: C E
authors.initials: CE
authors.lastname: Marroquin
authors.forename: A
authors.initials: A
authors.lastname: Greenberg
mesh_terms: D000368:Aged; D002118:Calcium / Q000652:urine; D033001:Directed Tissue Donation; D005260:Female; D006801:Humans; D006934:Hypercalcemia / Q000150:complications* / Q000235:genetics; D007676:Kidney Failure, Chronic / Q000150:complications* / Q000601:surgery*; D016030:Kidney Transplantation; D019520:Living Donors; D010375:Pedigree; D010758:Phosphorus / Q000652:urine; D016896:Treatment Outcome
chemical_list: D010758:Phosphorus; D002118:Calcium