A case of severe hyperaldosteronism caused by a de novo mutation affecting a critical salt bridge Kir3.4 residue

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 1, 2015, Pages E114-E118

  Monticone, Silvia ^a   Bandulik, Sascha ^b   Stindl, Julia ^b   Zilbermint, Mihail ^c   Dedov, Ivan ^e   Mulatero, Paolo ^a   Allgaeuer, Michael ^d   Lee, Chyi Chia Richard ^d   Stratakis, Constantine A ^c   Williams, Tracy A ^a   Tiulpakov, Anatoly ^e  

^a UNIVERSITY OF TURIN   (Italy)

^b UNIVERSITY OF REGENSBURG   (Germany)

^c Eunice Kennedy Shriver National Institute of Child Health and Human Development   (Germany)

^d NATIONAL CANCER INSTITUTE   (United States)

^e ENDOCRINOLOGY RESEARCH CENTRE   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; CALCIUM CHANNEL BLOCKING AGENT; CREATININE; INWARDLY RECTIFYING POTASSIUM CHANNEL; INWARDLY RECTIFYING POTASSIUM CHANNEL KIR3.4; POTASSIUM; POTASSIUM CHLORIDE; RENIN; SODIUM; SPIRONOLACTONE; UNCLASSIFIED DRUG; G PROTEIN COUPLED INWARDLY RECTIFYING POTASSIUM CHANNEL;

ADRENAL CORTEX CELL; ADRENALECTOMY; ADULT; ALDOSTERONE BLOOD LEVEL; AORTA ROOT; ARTERY DILATATION; ARTICLE; BLOOD PRESSURE; BODY HEIGHT; CASE REPORT; CELL MEMBRANE DEPOLARIZATION; CHILD; CLINICAL EFFECTIVENESS; COMPUTER ASSISTED TOMOGRAPHY; CREATININE BLOOD LEVEL; DEXAMETHASONE SUPPRESSION TEST; DIABETES INSIPIDUS; DIET SUPPLEMENTATION; DISEASE SEVERITY; DNA ISOLATION; ENZYME ACTIVITY; FAILURE TO THRIVE; FEMALE; GENE; GENE EXPRESSION; GENE SEQUENCE; GERMLINE MUTATION; HUMAN; HUMAN CELL; HYPERTENSION; HYPOKALEMIA; IN VITRO STUDY; INFANT; KCJN5 GENE; MOLECULAR PATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION; POLYDIPSIA; POLYURIA; POTASSIUM BLOOD LEVEL; PRESCHOOL CHILD; PRIMARY HYPERALDOSTERONISM; SCHOOL CHILD; SODIUM BLOOD LEVEL; TRANSTHORACIC ECHOCARDIOGRAPHY; TREATMENT DURATION; URINE VOLUME; GENETICS; HYPERALDOSTERONISM; MUTATION;

CHILD, PRESCHOOL; FAILURE TO THRIVE; FEMALE; G PROTEIN-COUPLED INWARDLY-RECTIFYING POTASSIUM CHANNELS; HUMANS; HYPERALDOSTERONISM; MUTATION; POLYDIPSIA; POLYURIA;

EID: 84920584526     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-3636     Document Type: Article

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