The Prevalence of Familial Hyperaldosteronism in Apparently Sporadic Primary Aldosteronism in Germany: a Single Center Experience

被引:29
作者
Pallauf, A. [1 ]
Schirpenbach, C. [2 ]
Zwermann, O. [1 ]
Fischer, E. [1 ]
Morak, M. [1 ,3 ]
Holinski-Feder, E. [1 ,3 ]
Hofbauer, L. C. [4 ]
Beuschlein, F. [1 ]
Reincke, M. [1 ]
机构
[1] Klinikum LMU, Med Klin Campus Innenstadt, Munich, Germany
[2] Univ Wurzburg, Univ Klinikum Wurzburg, Med Klin 1, Wurzburg, Germany
[3] Med Genet Ctr Munich, Munich, Germany
[4] Tech Univ Gustav Carus, Univ Klinikum, Med Klin 3, Dresden, Germany
关键词
conn syndrome; primary aldosteronism; genetics; CYP11B1/CYP11B2; NONPOLYPOSIS COLON-CANCER; GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM; MENDELIAN HYPERTENSION; COLORECTAL-CANCER; MUTATION; 7P22; DIAGNOSIS; CORTISOL; HMLH1;
D O I
10.1055/s-0031-1299730
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Primary aldosteronism (PA) is the most frequent cause of secondary arterial hypertension. To date 3 forms of familial hyperaldosteronism (FH) have been described accounting for a small percentage of all PA cases. In Germany, the prevalence of FH is currently unknown. Our aim was to determine the prevalence of familiarity in a large cohort of patients with PA. A total of 166 patients with apparently sporadic PA in Munich were investigated. FH types I, II, and III were identifi ed using established clinical, biochemical, and molecu- lar criteria. Among the 166 patients with PA, 2 patients (1.2 %) reported a family history suggestive of FH. None of the 166 patients showed clinical, endocrine, or genetic evidence of FH type I. The 2 families had characteristic features of FH type II. Family A had 3 subjects aff ected out of 11 evaluated family members. Family B had 3 out of 4. Bilateral adrenal hyperplasia and unilateral adrenal adenoma were found within the same family. FH type I and FH type III are rare in Germany. With a prevalence of 1.2 %, FH type II seems to be more common in apparently sporadic PA than had been assumed so far.
引用
收藏
页码:215 / 220
页数:6
相关论文
共 29 条
[1]   Frequency of Familial Hyperaldosteronism Type 1 in a Hypertensive Pediatric Population Clinical and Biochemical Presentation [J].
Aglony, Marlene ;
Martinez-Aguayo, Alejandro ;
Carvajal, Cristian A. ;
Campino, Carmen ;
Garcia, Hernan ;
Bancalari, Rodrigo ;
Bolte, Lillian ;
Avalos, Carolina ;
Loureiro, Carolina ;
Trejo, Pamela ;
Brinkmann, Karin ;
Giadrosich, Vinka ;
Mericq, Veronica ;
Rocha, Ana ;
Avila, Alejandra ;
Perez, Viviana ;
Inostroza, Andrea ;
Fardella, Carlos E. .
HYPERTENSION, 2011, 57 (06) :1117-U169
[2]   Adrenal vein sampling using rapid cortisol assays in primary aldosteronism is useful in centers with low success rates [J].
Betz, Matthias J. ;
Degenhart, Christoph ;
Fischer, Evelyn ;
Pallauf, Anna ;
Brand, Volker ;
Linsenmaier, Ulrich ;
Beuschlein, Felix ;
Bidlingmaier, Martin ;
Reincke, Martin .
EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2011, 165 (02) :301-306
[3]   MUTATION IN THE DNA MISMATCH REPAIR GENE HOMOLOG HMLH1 IS ASSOCIATED WITH HEREDITARY NONPOLYPOSIS COLON-CANCER [J].
BRONNER, CE ;
BAKER, SM ;
MORRISON, PT ;
WARREN, G ;
SMITH, LG ;
LESCOE, MK ;
KANE, M ;
EARABINO, C ;
LIPFORD, J ;
LINDBLOM, A ;
TANNERGARD, P ;
BOLLAG, RJ ;
GODWIN, AR ;
WARD, DC ;
NORDENSKJOLD, M ;
FISHEL, R ;
KOLODNER, R ;
LISKAY, RM .
NATURE, 1994, 368 (6468) :258-261
[4]   K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension [J].
Choi, Murim ;
Scholl, Ute I. ;
Yue, Peng ;
Bjoerklund, Peyman ;
Zhao, Bixiao ;
Nelson-Williams, Carol ;
Ji, Weizhen ;
Cho, Yoonsang ;
Patel, Aniruddh ;
Men, Clara J. ;
Lolis, Elias ;
Wisgerhof, Max V. ;
Geller, David S. ;
Mane, Shrikant ;
Hellman, Per ;
Westin, Gunnar ;
Akerstrom, Goran ;
Wang, Wenhui ;
Carling, Tobias ;
Lifton, Richard P. .
SCIENCE, 2011, 331 (6018) :768-772
[5]   Diagnosis of endocrinological hypertension: when to screen, and by which method? [J].
Fischer, E. ;
Beuschlein, F. ;
Reincke, M. .
DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT, 2011, 136 (11) :537-540
[6]   THE HUMAN MUTATOR GENE HOMOLOG MSH2 AND ITS ASSOCIATION WITH HEREDITARY NONPOLYPOSIS COLON-CANCER [J].
FISHEL, R ;
LESCOE, MK ;
RAO, MRS ;
COPELAND, NG ;
JENKINS, NA ;
GARBER, J ;
KANE, M ;
KOLODNER, R .
CELL, 1993, 75 (05) :1027-1038
[7]   Case detection, diagnosis, and treatment of patients with primary aldosteronism: An endocrine society clinical practice guideline [J].
Funder, John W. ;
Carey, Robert M. ;
Fardella, Carlos ;
Gomez-Sanchez, Celso E. ;
Mantero, Franco ;
Stowasser, Michael ;
Young, William F., Jr. ;
Montori, Victor M. .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2008, 93 (09) :3266-3281
[8]   A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism [J].
Geller, David S. ;
Zhang, Junhui ;
Wisgerhof, Max V. ;
Shackleton, Cedric ;
Kashgarian, Michael ;
Lifton, Richard P. .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2008, 93 (08) :3117-3123
[9]   DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2 [J].
Holinski-Feder, E ;
Müller-Koch, Y ;
Friedl, W ;
Moselein, G ;
Keller, G ;
Plaschke, J ;
Ballhausen, W ;
Gross, M ;
Baldwin-Jedele, K ;
Jungck, M ;
Mangold, E ;
Vogelsang, H ;
Schackert, HK ;
Lohse, P ;
Murken, J ;
Meitinger, T .
JOURNAL OF BIOCHEMICAL AND BIOPHYSICAL METHODS, 2001, 47 (1-2) :21-32
[10]   Familial adenomatous polyposis and hypertension [J].
Hopkins, Tom Glass ;
Salem, Victoria ;
El-Gayar, Heba ;
Palazzo, Fausto F. ;
Meeran, Karim ;
Tan, Tricia .
LANCET, 2010, 375 (9727) :1752-1752