PubMed:30569443 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/30569443","sourcedb":"PubMed","sourceid":"30569443","source_url":"https://www.ncbi.nlm.nih.gov/pubmed/30569443","text":"Familial hyperaldosteronism type III a novel case and review of literature.\nLess than 15% of hypertension cases in children are secondary to a primary hyperaldosteronism. This is idiopathic in 60% of the cases, secondary to a unilateral adenoma in 30% and 10% remaining by primary adrenal hyperplasia, familial hyperaldosteronism, ectopic aldosterone production or adrenocortical carcinoma.To date, four types of familial hyperaldosteronism (FH I to FH IV) have been reported. FH III is caused by germline mutations in KCNJ5, encoding the potassium channel Kir3.4. The mutations cause the channel to lose its selectivity for potassium, allowing large quantities of sodium to enter the cell. As a consequence, the membrane depolarizes, voltage-gated calcium channels open, calcium enters the cell, initiating the cascade that leads to aldosterone synthesis. Somatic mutations in KCNJ5 has also been described in aldosterone-producing adenomas. The most frequent presentation of FH III is with severe hyperaldosteronism symptoms and resistance to pharmacological therapy which leads to bilateral adrenalectomy. We will review current literature and describe a child with FH III due to a novel de novo deletion in KCNJ5 with wild phenotype as a sign of clinical variability of this disease.","tracks":[{"project":"sonoma","denotations":[{"id":"T-0","span":{"begin":0,"end":36},"obj":"DISEASE"},{"id":"T-1","span":{"begin":93,"end":105},"obj":"DISEASE"},{"id":"T-2","span":{"begin":128,"end":137},"obj":"REG"},{"id":"T-3","span":{"begin":143,"end":169},"obj":"DISEASE"},{"id":"T-4","span":{"begin":211,"end":220},"obj":"REG"},{"id":"T-5","span":{"begin":237,"end":244},"obj":"DISEASE"},{"id":"T-6","span":{"begin":260,"end":269},"obj":"REG"},{"id":"T-7","span":{"begin":273,"end":300},"obj":"DISEASE"},{"id":"T-8","span":{"begin":302,"end":329},"obj":"DISEASE"},{"id":"T-9","span":{"begin":339,"end":361},"obj":"MPA"},{"id":"T-10","span":{"begin":365,"end":389},"obj":"DISEASE"},{"id":"T-11","span":{"begin":413,"end":440},"obj":"DISEASE"},{"id":"T-12","span":{"begin":442,"end":446},"obj":"DISEASE"},{"id":"T-13","span":{"begin":477,"end":483},"obj":"DISEASE"},{"id":"T-14","span":{"begin":487,"end":493},"obj":"REG"},{"id":"T-15","span":{"begin":494,"end":496},"obj":"REG"},{"id":"T-16","span":{"begin":506,"end":515},"obj":"VAR"},{"id":"T-17","span":{"begin":519,"end":524},"obj":"GENE"},{"id":"T-18","span":{"begin":526,"end":534},"obj":"REG"},{"id":"T-19","span":{"begin":557,"end":563},"obj":"GENE"},{"id":"T-20","span":{"begin":569,"end":578},"obj":"VAR"},{"id":"T-21","span":{"begin":579,"end":584},"obj":"REG"},{"id":"T-22","span":{"begin":600,"end":604},"obj":"NEGREG"},{"id":"T-23","span":{"begin":609,"end":620},"obj":"MPA"},{"id":"T-24","span":{"begin":645,"end":650},"obj":"POSREG"},{"id":"T-25","span":{"begin":735,"end":765},"obj":"GENE"},{"id":"T-26","span":{"begin":797,"end":807},"obj":"REG"},{"id":"T-27","span":{"begin":825,"end":830},"obj":"REG"},{"id":"T-28","span":{"begin":834,"end":855},"obj":"MPA"},{"id":"T-29","span":{"begin":865,"end":874},"obj":"VAR"},{"id":"T-30","span":{"begin":878,"end":883},"obj":"GENE"},{"id":"T-31","span":{"begin":898,"end":907},"obj":"REG"},{"id":"T-32","span":{"begin":911,"end":941},"obj":"DISEASE"},{"id":"T-33","span":{"begin":952,"end":960},"obj":"REG"},{"id":"T-34","span":{"begin":961,"end":973},"obj":"REG"},{"id":"T-35","span":{"begin":977,"end":983},"obj":"DISEASE"},{"id":"T-36","span":{"begin":999,"end":1017},"obj":"DISEASE"},{"id":"T-37","span":{"begin":1031,"end":1041},"obj":"NEGREG"},{"id":"T-38","span":{"begin":1075,"end":1080},"obj":"REG"},{"id":"T-39","span":{"begin":1084,"end":1107},"obj":"CPA"},{"id":"T-40","span":{"begin":1169,"end":1175},"obj":"DISEASE"},{"id":"T-41","span":{"begin":1176,"end":1179},"obj":"REG"},{"id":"T-42","span":{"begin":1199,"end":1207},"obj":"VAR"},{"id":"T-43","span":{"begin":1211,"end":1216},"obj":"GENE"}],"relations":[{"id":"R-29","pred":"ThemeOf","subj":"T-39","obj":"T-38"},{"id":"R-30","pred":"ThemeOf","subj":"T-40","obj":"T-41"},{"id":"R-31","pred":"CauseOf","subj":"T-42","obj":"T-41"},{"id":"R-32","pred":"ThemeOf","subj":"T-43","obj":"T-42"},{"id":"R-0","pred":"ThemeOf","subj":"T-1","obj":"T-2"},{"id":"R-1","pred":"ThemeOf","subj":"T-3","obj":"T-2"},{"id":"R-2","pred":"ThemeOf","subj":"T-5","obj":"T-4"},{"id":"R-3","pred":"ThemeOf","subj":"T-7","obj":"T-6"},{"id":"R-4","pred":"ThemeOf","subj":"T-8","obj":"T-6"},{"id":"R-5","pred":"ThemeOf","subj":"T-10","obj":"T-6"},{"id":"R-6","pred":"ThemeOf","subj":"T-13","obj":"T-14"},{"id":"R-7","pred":"CauseOf","subj":"T-16","obj":"T-13"},{"id":"R-8","pred":"CauseOf","subj":"T-15","obj":"T-14"},{"id":"R-9","pred":"CauseOf","subj":"T-16","obj":"T-14"},{"id":"R-10","pred":"CauseOf","subj":"T-16","obj":"T-15"},{"id":"R-11","pred":"ThemeOf","subj":"T-17","obj":"T-16"},{"id":"R-12","pred":"ThemeOf","subj":"T-19","obj":"T-16"},{"id":"R-13","pred":"ThemeOf","subj":"T-19","obj":"T-18"},{"id":"R-14","pred":"CauseOf","subj":"T-20","obj":"T-21"},{"id":"R-15","pred":"CauseOf","subj":"T-20","obj":"T-22"},{"id":"R-16","pred":"CauseOf","subj":"T-20","obj":"T-24"},{"id":"R-17","pred":"CauseOf","subj":"T-22","obj":"T-21"},{"id":"R-18","pred":"ThemeOf","subj":"T-23","obj":"T-22"},{"id":"R-19","pred":"ThemeOf","subj":"T-28","obj":"T-27"},{"id":"R-20","pred":"CauseOf","subj":"T-29","obj":"T-26"},{"id":"R-21","pred":"CauseOf","subj":"T-29","obj":"T-31"},{"id":"R-22","pred":"ThemeOf","subj":"T-30","obj":"T-29"},{"id":"R-23","pred":"ThemeOf","subj":"T-32","obj":"T-31"},{"id":"R-24","pred":"ThemeOf","subj":"T-34","obj":"T-33"},{"id":"R-25","pred":"ThemeOf","subj":"T-35","obj":"T-33"},{"id":"R-26","pred":"ThemeOf","subj":"T-35","obj":"T-34"},{"id":"R-27","pred":"ThemeOf","subj":"T-36","obj":"T-33"},{"id":"R-28","pred":"ThemeOf","subj":"T-36","obj":"T-34"}],"attributes":[{"subj":"T-0","pred":"source","obj":"sonoma"},{"subj":"T-1","pred":"source","obj":"sonoma"},{"subj":"T-2","pred":"source","obj":"sonoma"},{"subj":"T-3","pred":"source","obj":"sonoma"},{"subj":"T-4","pred":"source","obj":"sonoma"},{"subj":"T-5","pred":"source","obj":"sonoma"},{"subj":"T-6","pred":"source","obj":"sonoma"},{"subj":"T-7","pred":"source","obj":"sonoma"},{"subj":"T-8","pred":"source","obj":"sonoma"},{"subj":"T-9","pred":"source","obj":"sonoma"},{"subj":"T-10","pred":"source","obj":"sonoma"},{"subj":"T-11","pred":"source","obj":"sonoma"},{"subj":"T-12","pred":"source","obj":"sonoma"},{"subj":"T-13","pred":"source","obj":"sonoma"},{"subj":"T-14","pred":"source","obj":"sonoma"},{"subj":"T-15","pred":"source","obj":"sonoma"},{"subj":"T-16","pred":"source","obj":"sonoma"},{"subj":"T-17","pred":"source","obj":"sonoma"},{"subj":"T-18","pred":"source","obj":"sonoma"},{"subj":"T-19","pred":"source","obj":"sonoma"},{"subj":"T-20","pred":"source","obj":"sonoma"},{"subj":"T-21","pred":"source","obj":"sonoma"},{"subj":"T-22","pred":"source","obj":"sonoma"},{"subj":"T-23","pred":"source","obj":"sonoma"},{"subj":"T-24","pred":"source","obj":"sonoma"},{"subj":"T-25","pred":"source","obj":"sonoma"},{"subj":"T-26","pred":"source","obj":"sonoma"},{"subj":"T-27","pred":"source","obj":"sonoma"},{"subj":"T-28","pred":"source","obj":"sonoma"},{"subj":"T-29","pred":"source","obj":"sonoma"},{"subj":"T-30","pred":"source","obj":"sonoma"},{"subj":"T-31","pred":"source","obj":"sonoma"},{"subj":"T-32","pred":"source","obj":"sonoma"},{"subj":"T-33","pred":"source","obj":"sonoma"},{"subj":"T-34","pred":"source","obj":"sonoma"},{"subj":"T-35","pred":"source","obj":"sonoma"},{"subj":"T-36","pred":"source","obj":"sonoma"},{"subj":"T-37","pred":"source","obj":"sonoma"},{"subj":"T-38","pred":"source","obj":"sonoma"},{"subj":"T-39","pred":"source","obj":"sonoma"},{"subj":"T-40","pred":"source","obj":"sonoma"},{"subj":"T-41","pred":"source","obj":"sonoma"},{"subj":"T-42","pred":"source","obj":"sonoma"},{"subj":"T-43","pred":"source","obj":"sonoma"}]},{"project":"sonoma2","denotations":[{"id":"T0","span":{"begin":0,"end":27},"obj":"DISEASE"},{"id":"T1","span":{"begin":0,"end":32},"obj":"DISEASE"},{"id":"T2","span":{"begin":9,"end":36},"obj":"DISEASE"},{"id":"T3","span":{"begin":93,"end":105},"obj":"DISEASE"},{"id":"T4","span":{"begin":128,"end":137},"obj":"REG"},{"id":"T5","span":{"begin":143,"end":169},"obj":"DISEASE"},{"id":"T6","span":{"begin":151,"end":169},"obj":"DISEASE"},{"id":"T7","span":{"begin":237,"end":244},"obj":"DISEASE"},{"id":"T8","span":{"begin":260,"end":269},"obj":"REG"},{"id":"T9","span":{"begin":281,"end":300},"obj":"DISEASE"},{"id":"T10","span":{"begin":302,"end":329},"obj":"DISEASE"},{"id":"T11","span":{"begin":339,"end":361},"obj":"MPA"},{"id":"T12","span":{"begin":365,"end":389},"obj":"DISEASE"},{"id":"T13","span":{"begin":413,"end":440},"obj":"DISEASE"},{"id":"T14","span":{"begin":442,"end":444},"obj":"DISEASE"},{"id":"T15","span":{"begin":450,"end":452},"obj":"DISEASE"},{"id":"T16","span":{"begin":477,"end":479},"obj":"DISEASE"},{"id":"T17","span":{"begin":480,"end":483},"obj":"DISEASE"},{"id":"T18","span":{"begin":487,"end":493},"obj":"REG"},{"id":"T19","span":{"begin":494,"end":496},"obj":"REG"},{"id":"T20","span":{"begin":506,"end":515},"obj":"VAR"},{"id":"T21","span":{"begin":519,"end":524},"obj":"GENE"},{"id":"T22","span":{"begin":526,"end":534},"obj":"REG"},{"id":"T23","span":{"begin":557,"end":563},"obj":"GENE"},{"id":"T24","span":{"begin":569,"end":578},"obj":"VAR"},{"id":"T25","span":{"begin":579,"end":584},"obj":"REG"},{"id":"T26","span":{"begin":589,"end":596},"obj":"GENE"},{"id":"T27","span":{"begin":600,"end":604},"obj":"NEGREG"},{"id":"T28","span":{"begin":609,"end":634},"obj":"MPA"},{"id":"T29","span":{"begin":636,"end":644},"obj":"REG"},{"id":"T30","span":{"begin":651,"end":671},"obj":"MPA"},{"id":"T31","span":{"begin":675,"end":680},"obj":"MPA"},{"id":"T32","span":{"begin":685,"end":689},"obj":"CPA"},{"id":"T33","span":{"begin":713,"end":733},"obj":"CPA"},{"id":"T34","span":{"begin":735,"end":770},"obj":"CPA"},{"id":"T35","span":{"begin":772,"end":795},"obj":"CPA"},{"id":"T36","span":{"begin":797,"end":807},"obj":"REG"},{"id":"T37","span":{"begin":825,"end":830},"obj":"REG"},{"id":"T38","span":{"begin":846,"end":855},"obj":"MPA"},{"id":"T39","span":{"begin":865,"end":874},"obj":"VAR"},{"id":"T40","span":{"begin":878,"end":883},"obj":"GENE"},{"id":"T41","span":{"begin":898,"end":907},"obj":"REG"},{"id":"T42","span":{"begin":933,"end":941},"obj":"DISEASE"},{"id":"T43","span":{"begin":952,"end":960},"obj":"REG"},{"id":"T44","span":{"begin":977,"end":979},"obj":"DISEASE"},{"id":"T45","span":{"begin":999,"end":1017},"obj":"MPA"},{"id":"T46","span":{"begin":999,"end":1026},"obj":"DISEASE"},{"id":"T47","span":{"begin":1042,"end":1068},"obj":"CPA"},{"id":"T48","span":{"begin":1075,"end":1080},"obj":"REG"},{"id":"T49","span":{"begin":1084,"end":1107},"obj":"CPA"},{"id":"T50","span":{"begin":1169,"end":1171},"obj":"DISEASE"},{"id":"T51","span":{"begin":1176,"end":1179},"obj":"REG"},{"id":"T52","span":{"begin":1180,"end":1182},"obj":"REG"},{"id":"T53","span":{"begin":1199,"end":1207},"obj":"VAR"},{"id":"T54","span":{"begin":1211,"end":1216},"obj":"GENE"}],"relations":[{"id":"R21","pred":"CauseOf","subj":"T20","obj":"T27"},{"id":"R22","pred":"CauseOf","subj":"T20","obj":"T29"},{"id":"R23","pred":"CauseOf","subj":"T20","obj":"T33"},{"id":"R24","pred":"CauseOf","subj":"T20","obj":"T36"},{"id":"R25","pred":"CauseOf","subj":"T20","obj":"T37"},{"id":"R26","pred":"ThemeOf","subj":"T21","obj":"T20"},{"id":"R27","pred":"ThemeOf","subj":"T21","obj":"T24"},{"id":"R28","pred":"CauseOf","subj":"T24","obj":"T18"},{"id":"R29","pred":"CauseOf","subj":"T24","obj":"T19"},{"id":"R30","pred":"CauseOf","subj":"T24","obj":"T25"},{"id":"R0","pred":"ThemeOf","subj":"T5","obj":"T4"},{"id":"R1","pred":"ThemeOf","subj":"T5","obj":"T8"},{"id":"R2","pred":"ThemeOf","subj":"T7","obj":"T4"},{"id":"R3","pred":"ThemeOf","subj":"T7","obj":"T8"},{"id":"R4","pred":"ThemeOf","subj":"T10","obj":"T4"},{"id":"R5","pred":"ThemeOf","subj":"T10","obj":"T8"},{"id":"R6","pred":"ThemeOf","subj":"T11","obj":"T4"},{"id":"R7","pred":"ThemeOf","subj":"T11","obj":"T8"},{"id":"R8","pred":"ThemeOf","subj":"T12","obj":"T4"},{"id":"R9","pred":"ThemeOf","subj":"T12","obj":"T8"},{"id":"R10","pred":"ThemeOf","subj":"T16","obj":"T17"},{"id":"R11","pred":"ThemeOf","subj":"T16","obj":"T18"},{"id":"R12","pred":"ThemeOf","subj":"T16","obj":"T19"},{"id":"R13","pred":"ThemeOf","subj":"T17","obj":"T18"},{"id":"R14","pred":"ThemeOf","subj":"T17","obj":"T19"},{"id":"R15","pred":"CauseOf","subj":"T20","obj":"T16"},{"id":"R16","pred":"CauseOf","subj":"T20","obj":"T17"},{"id":"R17","pred":"CauseOf","subj":"T20","obj":"T18"},{"id":"R18","pred":"CauseOf","subj":"T20","obj":"T19"},{"id":"R19","pred":"CauseOf","subj":"T20","obj":"T22"},{"id":"R20","pred":"CauseOf","subj":"T20","obj":"T25"},{"id":"R31","pred":"CauseOf","subj":"T24","obj":"T27"},{"id":"R32","pred":"CauseOf","subj":"T24","obj":"T29"},{"id":"R33","pred":"CauseOf","subj":"T24","obj":"T33"},{"id":"R34","pred":"CauseOf","subj":"T24","obj":"T36"},{"id":"R35","pred":"CauseOf","subj":"T24","obj":"T37"},{"id":"R36","pred":"ThemeOf","subj":"T26","obj":"T25"},{"id":"R37","pred":"ThemeOf","subj":"T28","obj":"T27"},{"id":"R38","pred":"ThemeOf","subj":"T30","obj":"T29"},{"id":"R39","pred":"ThemeOf","subj":"T32","obj":"T31"},{"id":"R40","pred":"ThemeOf","subj":"T38","obj":"T37"},{"id":"R41","pred":"CauseOf","subj":"T39","obj":"T36"},{"id":"R42","pred":"CauseOf","subj":"T39","obj":"T41"},{"id":"R43","pred":"ThemeOf","subj":"T40","obj":"T39"},{"id":"R44","pred":"ThemeOf","subj":"T42","obj":"T41"},{"id":"R45","pred":"ThemeOf","subj":"T42","obj":"T43"},{"id":"R46","pred":"ThemeOf","subj":"T44","obj":"T43"},{"id":"R47","pred":"ThemeOf","subj":"T44","obj":"T45"},{"id":"R48","pred":"ThemeOf","subj":"T44","obj":"T47"},{"id":"R49","pred":"ThemeOf","subj":"T44","obj":"T48"},{"id":"R50","pred":"ThemeOf","subj":"T45","obj":"T43"},{"id":"R51","pred":"ThemeOf","subj":"T47","obj":"T43"},{"id":"R52","pred":"ThemeOf","subj":"T49","obj":"T43"},{"id":"R53","pred":"ThemeOf","subj":"T49","obj":"T48"},{"id":"R54","pred":"ThemeOf","subj":"T50","obj":"T51"},{"id":"R55","pred":"ThemeOf","subj":"T50","obj":"T52"},{"id":"R56","pred":"CauseOf","subj":"T53","obj":"T50"},{"id":"R57","pred":"CauseOf","subj":"T53","obj":"T51"},{"id":"R58","pred":"CauseOf","subj":"T53","obj":"T52"},{"id":"R59","pred":"ThemeOf","subj":"T54","obj":"T53"}],"attributes":[{"subj":"T0","pred":"source","obj":"sonoma2"},{"subj":"T1","pred":"source","obj":"sonoma2"},{"subj":"T2","pred":"source","obj":"sonoma2"},{"subj":"T3","pred":"source","obj":"sonoma2"},{"subj":"T4","pred":"source","obj":"sonoma2"},{"subj":"T5","pred":"source","obj":"sonoma2"},{"subj":"T6","pred":"source","obj":"sonoma2"},{"subj":"T7","pred":"source","obj":"sonoma2"},{"subj":"T8","pred":"source","obj":"sonoma2"},{"subj":"T9","pred":"source","obj":"sonoma2"},{"subj":"T10","pred":"source","obj":"sonoma2"},{"subj":"T11","pred":"source","obj":"sonoma2"},{"subj":"T12","pred":"source","obj":"sonoma2"},{"subj":"T13","pred":"source","obj":"sonoma2"},{"subj":"T14","pred":"source","obj":"sonoma2"},{"subj":"T15","pred":"source","obj":"sonoma2"},{"subj":"T16","pred":"source","obj":"sonoma2"},{"subj":"T17","pred":"source","obj":"sonoma2"},{"subj":"T18","pred":"source","obj":"sonoma2"},{"subj":"T19","pred":"source","obj":"sonoma2"},{"subj":"T20","pred":"source","obj":"sonoma2"},{"subj":"T21","pred":"source","obj":"sonoma2"},{"subj":"T22","pred":"source","obj":"sonoma2"},{"subj":"T23","pred":"source","obj":"sonoma2"},{"subj":"T24","pred":"source","obj":"sonoma2"},{"subj":"T25","pred":"source","obj":"sonoma2"},{"subj":"T26","pred":"source","obj":"sonoma2"},{"subj":"T27","pred":"source","obj":"sonoma2"},{"subj":"T28","pred":"source","obj":"sonoma2"},{"subj":"T29","pred":"source","obj":"sonoma2"},{"subj":"T30","pred":"source","obj":"sonoma2"},{"subj":"T31","pred":"source","obj":"sonoma2"},{"subj":"T32","pred":"source","obj":"sonoma2"},{"subj":"T33","pred":"source","obj":"sonoma2"},{"subj":"T34","pred":"source","obj":"sonoma2"},{"subj":"T35","pred":"source","obj":"sonoma2"},{"subj":"T36","pred":"source","obj":"sonoma2"},{"subj":"T37","pred":"source","obj":"sonoma2"},{"subj":"T38","pred":"source","obj":"sonoma2"},{"subj":"T39","pred":"source","obj":"sonoma2"},{"subj":"T40","pred":"source","obj":"sonoma2"},{"subj":"T41","pred":"source","obj":"sonoma2"},{"subj":"T42","pred":"source","obj":"sonoma2"},{"subj":"T43","pred":"source","obj":"sonoma2"},{"subj":"T44","pred":"source","obj":"sonoma2"},{"subj":"T45","pred":"source","obj":"sonoma2"},{"subj":"T46","pred":"source","obj":"sonoma2"},{"subj":"T47","pred":"source","obj":"sonoma2"},{"subj":"T48","pred":"source","obj":"sonoma2"},{"subj":"T49","pred":"source","obj":"sonoma2"},{"subj":"T50","pred":"source","obj":"sonoma2"},{"subj":"T51","pred":"source","obj":"sonoma2"},{"subj":"T52","pred":"source","obj":"sonoma2"},{"subj":"T53","pred":"source","obj":"sonoma2"},{"subj":"T54","pred":"source","obj":"sonoma2"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"sonoma","color":"#d3ec93","default":true},{"id":"sonoma2","color":"#ea93ec"}]}]}}