Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: A patient report and review of the literature

Hormone Research in Paediatrics

Volumn 82, Issue 2, 2014, Pages 138-142

  Adachi, Masanori ^a   Muroya, Koji ^a   Asakura, Yumi ^a   Sugiyama, Kenji ^b   Homma, Keiko ^c   Hasegawa, Tomonobu ^d  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^b Mie Pref General Medical Center   (Japan)

^c KEIO UNIVERSITY HOSPITAL   (Japan)

^d KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Endocrine hypertension; Familial hyperaldosteronism; KCNJ5; Kir3.4; Primary aldosteronism

Indexed keywords

18 HYDROXYHYDROCORTISONE; ALDOSTERONE; DEXAMETHASONE; POTASSIUM; RENIN; SPIRONOLACTONE; VASOPRESSIN; G PROTEIN COUPLED INWARDLY RECTIFYING POTASSIUM CHANNEL; KCNJ5 PROTEIN, HUMAN; MINERALOCORTICOID ANTAGONIST;

18 HYDROXYHYDROCORTISONE URINE LEVEL; ALDOSTERONE BLOOD LEVEL; ARTICLE; CASE REPORT; CHILD; CLINICAL EVALUATION; DISEASE COURSE; DRUG TREATMENT FAILURE; FAMILIAL HYPERALDOSTERONISM TYPE III; FEMALE; G151R GENE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERTENSION; HYPOKALEMIA; KCNJ5 GENE; KIDNEY CONCENTRATING CAPACITY; ONSET AGE; PATIENT REFERRAL; PLASMA RENIN ACTIVITY; POLYDIPSIA; POLYURIA; POTASSIUM BLOOD LEVEL; PRESCHOOL CHILD; PRIMARY HYPERALDOSTERONISM; PRIORITY JOURNAL; TETRAHYDROALDOSTERONE URINE LEVEL; TREATMENT DURATION; TREATMENT OUTCOME; TREATMENT RESPONSE; URINE LEVEL; URINE OSMOLALITY; URINE VOLUME; WATER DEPRIVATION; ADRENAL GLAND; AMINO ACID SUBSTITUTION; GENETICS; HYPERALDOSTERONISM; MALE; MISSENSE MUTATION; PATHOLOGY;

ADRENAL GLANDS; AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; G PROTEIN-COUPLED INWARDLY-RECTIFYING POTASSIUM CHANNELS; HUMANS; HYPERALDOSTERONISM; MALE; MINERALOCORTICOID RECEPTOR ANTAGONISTS; MUTATION, MISSENSE; POLYURIA; SPIRONOLACTONE;

EID: 84928162344     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000358197     Document Type: Article

References (16)

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