Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review

American Journal of Nephrology

Volumn 42, Issue , 2015, Pages 85-90

  Van Der Made, Cas I ^a   Hoorn, Ewout J ^b   De La Faille, Renaud ^d   Karaaslan, Huseyin ^e   Knoers, Nine V A M ^c   Hoenderop, Joost G J ^a   Vargas Poussou, Rosa ^f   De Baaij, Jeroen H F ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d BORDEAUX UNIVERSITY HOSPITAL   (France)

^e Hôpital Medipole   (France)

^f HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

ADTKD HNF1B; CAKUT; HNF1B; Hypomagnesemia; MODY5; RCAD

Indexed keywords

DNA; GLUCOSE; HEMOGLOBIN A1C; HEPATOCYTE NUCLEAR FACTOR 1BETA; INSULIN; PROTEIN VARIANT; TRANSIENT RECEPTOR POTENTIAL CHANNEL M6; GLUCOSE BLOOD LEVEL; HNF1B PROTEIN, HUMAN;

ADULT; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE SUBTYPE HEPATOCYTE NUCLEAR FACTOR 1 BETA; CASE REPORT; CASE STUDY; CHONDROCALCINOSIS; CHROMOSOME 17Q; CHROMOSOME 17Q12; CHROMOSOME DELETION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; COPY NUMBER VARIATION; DIABETES MELLITUS; ECHOGRAPHY; EPILEPSY; EXOME; FAILURE TO THRIVE; FOLLOW UP; GENE SEQUENCE; GENETIC ANALYSIS; GLUCOSE BLOOD LEVEL; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOSITY; HUMAN; HYPERGLYCEMIA; HYPERURICEMIA; HYPOCALCIURIA; HYPOMAGNESEMIA; INSULIN TREATMENT; INTENSIVE CARE; INTERSTITIAL NEPHRITIS; KIDNEY CYST; LUNG EMBOLISM; MAGNESIUM EXCRETION; MALE; MENTAL DEFICIENCY; MILD RENAL IMPAIRMENT; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEPHROLITHIASIS; NEPHROLOGIST; PREVALENCE; PRIORITY JOURNAL; REVIEW; URINALYSIS; CENTRAL NERVOUS SYSTEM DISEASES; COMPLICATION; CONGENITAL MALFORMATION; DIABETES MELLITUS, TYPE 2; ENAMEL; GENETIC SCREENING; GENETICS; KIDNEY DISEASES, CYSTIC; METABOLISM; NEPHRITIS, INTERSTITIAL; RENAL INSUFFICIENCY; RENAL TUBULAR TRANSPORT, INBORN ERRORS;

ADULT; BLOOD GLUCOSE; CENTRAL NERVOUS SYSTEM DISEASES; DENTAL ENAMEL; DIABETES MELLITUS, TYPE 2; EXOME; GENETIC TESTING; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; KIDNEY DISEASES, CYSTIC; MALE; NEPHRITIS, INTERSTITIAL; RENAL INSUFFICIENCY; RENAL TUBULAR TRANSPORT, INBORN ERRORS;

EID: 84941198145     PISSN: 02508095     EISSN: 14219670     Source Type: Journal    
DOI: 10.1159/000439286     Document Type: Review

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