Familial tumoral calcinosis caused by a novel FGF23 mutation: Response to induction of tubular renal acidosis with acetazolamide and the non-calcium phosphate binder sevelamer

Hormone Research

Volumn 71, Issue 3, 2009, Pages 178-184

  Lammoglia, Juan Javier ^a   Mericq, Veronica ^a  

^a UNIVERSITY OF CHILE   (Chile)

Author keywords

Acetazolamide; Familial tumoral calcinosis; FGF23 mutation; Hyperphosphatemic familial tumoral calcinosis; Sevelamer; Tubular renal acidosis

Indexed keywords

ACETAZOLAMIDE; ALUMINUM HYDROXIDE; FIBROBLAST GROWTH FACTOR 23; N ACETYLGALACTOSAMINYLTRANSFERASE; N ACETYLGALACTOSAMINYLTRANSFERASE 3; PARATHYROID HORMONE; PHOSPHATE; PROBENECID; SEVELAMER; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGALACTOSAMINE;

ADD ON THERAPY; AMINO ACID SUBSTITUTION; ARTICLE; CALCIFICATION; CASE REPORT; CAUCASIAN; CHILD; COMPUTER ASSISTED TOMOGRAPHY; DIET THERAPY; DISEASE ASSOCIATION; ELBOW; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENE SEQUENCE; HISTOPATHOLOGY; HOSPITAL ADMISSION; HUMAN; HYPERPHOSPHATEMIA; KIDNEY FUNCTION; KIDNEY TUBULE ABSORPTION; KIDNEY TUBULE ACIDOSIS; MISSENSE MUTATION; PARATHYROID HORMONE BLOOD LEVEL; PHOSPHATE BLOOD LEVEL; PHOSPHATE URINE LEVEL; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKIN ULCER; TREATMENT OUTCOME; TREATMENT RESPONSE; TUMOR CALCINOSIS;

ACETAZOLAMIDE; ACIDOSIS, RENAL TUBULAR; CALCINOSIS; CHELATING AGENTS; CHILD, PRESCHOOL; DIURETICS; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLAST GROWTH FACTORS; HUMANS; HYPERPHOSPHATEMIA; INFANT; MUTATION; NEOPLASMS; PEDIGREE; PHOSPHATES; POLYAMINES; SIBLINGS; TREATMENT OUTCOME;

EID: 59749100768     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000197876     Document Type: Article

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