The importance of genetic counseling and genetic screening: a case report of a 16-year-old boy with resistant hypertension and severe hypokalemia

Kuang, Zemin; Wang, Ying; Wang, Jiajie; Liu, Jinghua; Zeng, Rong; Zhou, Qi; Yu, Zhen-Qiu; Jiang, Long

doi:10.1016/j.jash.2017.01.012

Cited by 6 publications

(4 citation statements)

References 10 publications

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“…Currently, Liddle syndrome is suspected in hypertensive young patients, especially those with a family history of early-onset hypertension and hypokalemia (although neither features are present in mild or atypical cases) [5,7]. There appears to be no predilection for a particular gender or race/ethnicity, and the syndrome has been described worldwide [5].…”

Section: Introductionmentioning

confidence: 99%

A case report of three children with secondary hypertension caused by Liddle syndrome

Teoh

Shah

2020

CNCS

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Background: Liddle syndrome is a monogenetic cause of early-onset hypertension that is associated with hypokalemia and metabolic alkalosis that is inherited in an autosomal dominant fashion with variable penetrance. Case presentation: We present a case report of three children seen at a tertiary children's hospital with varying severity of hypertension and electrolyte disturbances, who had genetic testing performed due to strong family history of hypertension. They were each subsequently found with the same genetic mutation of SCNN1B consistent with Liddle syndrome and started on epithelial sodium channel inhibitors with improvement in their blood pressure. Conclusion: Due to its variable penetrance, Liddle syndrome can have varying severity of blood pressure and electrolyte disturbances. Prompt recognition of Liddle syndrome is important to prevent cardiovascular complications from uncontrolled hypertension.

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Section: Introductionmentioning

confidence: 99%

A case report of three children with secondary hypertension caused by Liddle syndrome

Teoh

Shah

2020

CNCS

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“…This issue is perhaps further heightened by varying diagnostic rates in different conditions and cohorts, from 29.5% in steroid-resistant NS 12 and 6% in CAKUT 19 to 80% in Alport syndrome 11 and 86.6% in Bardet-Biedl syndrome. 9 There is also limited literature regarding the counseling of renal patients both before testing and after obtaining the results of genetic testing, although reports of multidisciplinary clinic models 32 are emerging to compliment the growing number of instructive individual cases 33,34 and reports of the diagnostic evaluation of phenocopy disorders. 23,24 The Australian Renal Gene Panels service at The Children's Hospital in Westmead was commenced in mid-2013 by nephrologists, clinical geneticists, and molecular geneticists to provide a comprehensive national service; this was based on 5 years of testing for NS, which was previously provided by this molecular genetics laboratory.…”

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confidence: 99%

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders

Mallett

McCarthy

et al. 2017

Kidney International

100

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“…ìå éîãî çâ'ÿçîê ³ç ï³äâèùåííÿì ÀÒ àáî ae ÿê îö³íèòè ê³ëüê³ñíî éîãî ñèëó [4][5][6][7]. ²íòåíñè-ô³êàö³ÿ ïðîöåñ³â ÏÎË ó ïàö³ºíò³â ç ÀÃ ðîçãëÿäàºòüñÿ ÿê íàäçâè÷àéíî âàaeëèâèé ìåõà-í³çì ³í³ö³àö³¿ ³ ïðîãðåñóâàííÿ çàõâîðþâàííÿ ó éîãî ðàííüîìó ïåð³îä³.…”

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“…The appearance of endothelial defects in these areas leads to the initiation of oxidative stress and inflammatory processes. [1] Bilivol It is known that stress can lead to transient hypertension [4,5]. However, the exact nature of the stimulus, the duration of the stimulus action so that it can lead to serious consequences, the approach used to determine its connection with the increase of blood pressure (BP), or the method of a quantitative assessment of its strength have not been studied sufficiently [9][10][11].…”

Section: Impact Of Vitamin E and Selenium Intake On Antioxidant Prote...mentioning

confidence: 99%

Impact of Vitamin E and Selenium Intake on Antioxidant Protection Indicators During Physical Exertion in Individuals With Hypertension

Dronyk,

Dutka,

Chmyr

et al. 2023

AML

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Hypertension remains one of the main problems in modern medicine since it is a pathogenetic factor leading to a large number of cardiovascular diseases and premature death. The aim of the study is to measure and compare the levels of sulfhydryl groups in plasma and blood as well as reduced glutathione of erythrocytes in patients with stage II hypertension before and after engaging in a controlled physical exercise taking into account the intake of vitamin E and selenium. Material and Methods. There were 60 patients with stage II hypertension and 30 relatively healthy individuals. The individuals under observation performed a two-stage physical exercise on a stationary bicycle ergometer with the intensity, corresponding to 50 and 75% of the maximum oxygen consumption by the body. The overall duration of each stage of the physical exercise accounted for 5 minutes with a three-minute break to rest in between. Blood was taken from the ulnar vein before the cardiac stress test and 5 minutes after it. The content of sulfhydryl groups in plasma and erythrocytes, as well as reduced glutathione of erythrocytes was measured in patients before and after the physical exercise. The examination was conducted twice - before and after the intake of vitamin E and selenium. Results and Discussion. Since the immediate response to a cardiac stress test performed on a stationary bicycle is shown by changes in the level of non-protein-bound sulfhydryl groups of erythrocytes (the level decreases), it can be assumed that they are involved in the formation of the primary compensatory reaction in response to physical exercise in individuals suffering from arterial hypertension. Conclusion. Thus, the decrease in the level of non-protein-bound sulfhydryl groups of erythrocytes enables to assess the degree of stress that affects the human body, as well as the antioxidant protection enhancement in patients with hypertension after taking vitamin E and selenium both before and after engaging in physical exercise.

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The importance of genetic counseling and genetic screening: a case report of a 16-year-old boy with resistant hypertension and severe hypokalemia

Cited by 6 publications

References 10 publications

A case report of three children with secondary hypertension caused by Liddle syndrome

A case report of three children with secondary hypertension caused by Liddle syndrome

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders

Impact of Vitamin E and Selenium Intake on Antioxidant Protection Indicators During Physical Exertion in Individuals With Hypertension

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