Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: Phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations

Clinical Journal of the American Society of Nephrology

Volumn 7, Issue 5, 2012, Pages 801-809

  Godron, Astrid ^b   Harambat, Jérôme ^b   Boccio, Valérie ^b   Mensire, Anne ^b   May, Adrien ^b   Rigothier, Claire ^b   Couzi, Lionel ^b   Barrou, Benoit ^b   Godin, Michel ^b   Chauveau, Dominique ^b   Faguer, Stanislas ^b   Vallet, Marion ^b   Cochat, Pierre ^b   Eckart, Philippe ^b   Guest, Geneviève ^b   Guigonis, Vincent ^b   Houillier, Pascal ^b   Blanchard, Anne ^b   Jeunemaitre, Xavier ^b   Vargas Poussou, Rosa ^a  

^a HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CLAUDIN; CLAUDIN 16; CLAUDIN 19; INDOMETACIN; MAGNESIUM; THIAZIDE DIURETIC AGENT; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AUTOSOMAL RECESSIVE DISORDER; CALCIUM URINE LEVEL; CHILD; CHRONIC KIDNEY DISEASE; CLINICAL ARTICLE; DISEASE COURSE; FAMILIAL DISEASE; FAMILIAL HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS; FEMALE; FRAMESHIFT MUTATION; FRANCE; GENE DELETION; GENE FREQUENCY; GENOTYPE PHENOTYPE CORRELATION; GLOMERULUS FILTRATION RATE; HUMAN; HYPERCALCIURIA; HYPOMAGNESEMIA; KIDNEY CALCIFICATION; MAGNESIUM BLOOD LEVEL; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NORTH AFRICA; NUCLEOTIDE SEQUENCE; OUTCOME ASSESSMENT; POINT MUTATION; PRESCHOOL CHILD; RETROSPECTIVE STUDY; REVIEW; SCHOOL CHILD; SPAIN; SURVIVAL RATE; SURVIVAL TIME;

ADOLESCENT; ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; CHI-SQUARE DISTRIBUTION; CHILD; CHILD, PRESCHOOL; CLAUDINS; DISEASE PROGRESSION; DISEASE-FREE SURVIVAL; EUROPEAN CONTINENTAL ANCESTRY GROUP; EYE ABNORMALITIES; FEMALE; GENOTYPE; GLOMERULAR FILTRATION RATE; HUMANS; HYPERCALCIURIA; INFANT; KAPLAN-MEIER ESTIMATE; KIDNEY FAILURE, CHRONIC; MALE; MUTATION; NEPHROCALCINOSIS; PHENOTYPE; RENAL INSUFFICIENCY, CHRONIC; RENAL TUBULAR TRANSPORT, INBORN ERRORS; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84860758973     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.12841211     Document Type: Review

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