It is never too late for a genetic disease: a case of a 79-year-old man with persistent hypokalemia

被引：11

作者：

Brambilla, Gianmaria ^{[1
]}

Perotti, Mario ^{[1
]}

Perra, Silvia ^{[1
]}

Dell'Oro, Raffaella ^{[1
]}

Grassi, Guido ^{[1
]}

Pincelli, Angela Ida ^{[1
]}

机构：

[1] Univ Milano Bicocca, San Gerardo Hosp, Dept Clin Med, Monza, Italy

来源：

JOURNAL OF NEPHROLOGY | 2013年 / 26卷 / 03期

关键词：

Aliskiren; Gitelman syndrome; Hyperaldosteronism; Renin inhibitor; HYPERTENSION;

D O I：

10.5301/jn.5000256

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

Background: We describe a 79-year-old man with biochemical and radiological features of Gitelman syndrome: hypokalemia, hypomagnesemia, hyperreninemic hyperaldosteronism in absence of secondary hyperaldosteronism causes, and chondrocalcinosis. Methods and results: The diagnosis was confirmed by sequence analysis of the SLC12A3 gene showing the compound heterozygous mutation Gly439Ser and Arg1018Term. Aliskiren, a direct renin inhibitor, in combination with potassium and magnesium oral supplements was effective in ameliorating the electrolytic imbalance without any adverse effects. Conclusion: This study has shown for the first time that aliskiren may represent a reliable and safe treatment as an alternative to potassium-sparing diuretics for Gitelman syndrome.

引用

页码：594 / 598

页数：5

共 10 条

[1] New Therapeutic Options in Patients Prone to Hypertension: A Focus on Direct Renin Inhibition and Aldosterone Blockade [J].

Basile, Jan .

AMERICAN JOURNAL OF THE MEDICAL SCIENCES, 2009, 337 (06) :438-444

[2] Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis [J].

Fukuyama, S ;

Okudaira, S ;

Yamazato, S ;

Yamazato, M ;

Ohta, T .

KIDNEY INTERNATIONAL, 2003, 64 (03) :808-816

[3] Eplerenone Improved Hypokalemia in a Patient with Gitelman's Syndrome [J].

Ito, Yukiko ;

Yoshida, Masanori ;

Nakayama, Mikihiro ;

Tsutaya, Shoji ;

Ogawa, Koichiro ;

Maeda, Harumi ;

Miyata, Misaki ;

Oiso, Yutaka .

INTERNAL MEDICINE, 2012, 51 (01) :83-86

[4] Gitelman syndrome [J].

Knoers, Nine V. A. M. ;

Levtchenko, Elena N. .

ORPHANET JOURNAL OF RARE DISEASES, 2008, 3 (1)

[5] Novel therapies blocking the renin-angiotensin-aidosterone system in the management of hypertension and related disorders [J].

Krum, Henry ;

Gilbert, Richard E. .

JOURNAL OF HYPERTENSION, 2007, 25 (01) :25-35

[6]

Mastroianni N, 1996, AM J HUM GENET, V59, P1019

[7] Aliskiren, ALTITUDE, and the implications for ATMOSPHERE [J].

McMurray, John J. V. ;

Abraham, William T. ;

Dickstein, Kenneth ;

Kober, Lars ;

Massie, Barry M. ;

Krum, Henry .

EUROPEAN JOURNAL OF HEART FAILURE, 2012, 14 (04) :341-343

[8] Aldosterone increases Na plus -K plus -ATPase activity in skeletal muscle of patients with Conn's syndrome [J].

Phakdeekitcharoen, Bunyong ;

Kittikanokrat, Wassana ;

Kijkunasathian, Chusak ;

Chatsudthipong, Varanuj .

CLINICAL ENDOCRINOLOGY, 2011, 74 (02) :152-159

[9] Gitelman Syndrome [J].

Roser, Mattias ;

Eibl, Nermin ;

Eisenhaber, Birgit ;

Seringer, Jasmin ;

Nagel, Mato ;

Nagorka, Sylvia ;

Luft, Friedrich C. ;

Frei, Ulrich ;

Gollasch, Maik .

HYPERTENSION, 2009, 53 (06) :893-897

[10] Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects [J].

Seyberth, Hannsjoerg W. ;

Schlingmann, Karl P. .

PEDIATRIC NEPHROLOGY, 2011, 26 (10) :1789-1802

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