DESCRIBE <http://purl.uniprot.org/citations/24819081>

Subject	Predicate	Object
http://purl.uniprot.org/citations/24819081	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/24819081	http://www.w3.org/2000/01/rdf-schema#comment	" Background Familial hyperaldosteronism type III (FH-III) is a rare autosomal dominant disease for which five missense mutations in KCNJ5 have been identified. FH-III has a wide phenotypic variability from spironolactone-responsive hyperaldosteronism to massive adrenal hypertrophy with drug-resistant hypertension. This variation has mainly been attributed to genotype, because, in contrast to other genotypes (G151R, T158A, I157S, and Y152C), (1) FH-III patients with G151E have shown milder phenotype, and (2) G151E-harboring cells were found to have rapid lethality due to much larger sodium conductance of the encoded channel (Kir3.4), which prevents adrenal hypertrophy. Methods Here we describe the clinical course of a sporadic case of FH-III, with de novo G151R mutation. Results The patient developed polyuria at around 1.5 years of age and developed hypertension and hypokalemia by 4 years of age. Thereafter, spironolactone treatment successfully ameliorated hyperaldosteronism for 7 years with no discernible adrenal enlargement. Conclusion Diverse clinical severity in FH-III cannot be defined solely by KCNJ5 genotype."xsd:string
http://purl.uniprot.org/citations/24819081	http://purl.org/dc/terms/identifier	"doi:10.1159/000358197"xsd:string
http://purl.uniprot.org/citations/24819081	http://purl.uniprot.org/core/author	"Hasegawa T."xsd:string
http://purl.uniprot.org/citations/24819081	http://purl.uniprot.org/core/author	"Sugiyama K."xsd:string
http://purl.uniprot.org/citations/24819081	http://purl.uniprot.org/core/author	"Adachi M."xsd:string
http://purl.uniprot.org/citations/24819081	http://purl.uniprot.org/core/author	"Homma K."xsd:string
http://purl.uniprot.org/citations/24819081	http://purl.uniprot.org/core/author	"Asakura Y."xsd:string
http://purl.uniprot.org/citations/24819081	http://purl.uniprot.org/core/author	"Muroya K."xsd:string
http://purl.uniprot.org/citations/24819081	http://purl.uniprot.org/core/date	"2014"xsd:gYear
http://purl.uniprot.org/citations/24819081	http://purl.uniprot.org/core/name	"Horm Res Paediatr"xsd:string
http://purl.uniprot.org/citations/24819081	http://purl.uniprot.org/core/pages	"138-142"xsd:string
http://purl.uniprot.org/citations/24819081	http://purl.uniprot.org/core/title	"Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: a patient report and review of the literature."xsd:string
http://purl.uniprot.org/citations/24819081	http://purl.uniprot.org/core/volume	"82"xsd:string
http://purl.uniprot.org/citations/24819081	http://www.w3.org/2004/02/skos/core#exactMatch	http://purl.uniprot.org/pubmed/24819081
http://purl.uniprot.org/citations/24819081	http://xmlns.com/foaf/0.1/primaryTopicOf	https://pubmed.ncbi.nlm.nih.gov/24819081
http://purl.uniprot.org/uniprot/#_A0A5J6E2W8-mappedCitation-24819081	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/24819081
http://purl.uniprot.org/uniprot/#_H9A8K9-mappedCitation-24819081	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/24819081
http://purl.uniprot.org/uniprot/#_H9A8L0-mappedCitation-24819081	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/24819081
http://purl.uniprot.org/uniprot/#_H7CGH0-mappedCitation-24819081	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/24819081
http://purl.uniprot.org/uniprot/#_Q4QRJ2-mappedCitation-24819081	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/24819081
http://purl.uniprot.org/uniprot/#_P48544-mappedCitation-24819081	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/24819081
http://purl.uniprot.org/uniprot/H9A8K9	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/24819081
http://purl.uniprot.org/uniprot/H9A8L0	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/24819081
http://purl.uniprot.org/uniprot/A0A5J6E2W8	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/24819081