A rare cause of hypertension in childhood: Answers

A genetic defect of 11 β-hydroxysteroid dehydrogenase causes apparent mineralocorticoid excess syndrome. Since 50 days of life, our patient was hospitalized several times for various reasons including hypokalemia. At the age of 3.3 years, she was diagnosed with severe hypertension (160/120 mmHg). She also had left ventricular hypertrophy and hypertensive retinopathy and referred to our center. Her renal function and electrolytes were normal except for hypokalemia. She was on captopril treatment; nifedipine and propranolol were added. Plasma renin and aldosterone concentrations were 1.13 pg/ml (1–8.2 pg/ml) and 12.2 ng/dl (35–300 ng/dl), respectively. Severe hypertension, hypokalemia, low renin and aldosterone levels pointed to the diagnosis of apparent mineralocorticoid excess syndrome. Strict salt-restricted diet and potassium citrate were ordered. Genetic analysis of the HSD11B2 gene showed c.623G>A (p.Arg208His). Spironolactone was initiated. On follow-up, amiloride was added and her blood pressure was controlled. In patients with severe HSD11B2 mutation, combination therapy of spironolactone with amiloride could be effective in controlling blood pressure.

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“…Kucuk et al . reported three patients with AME who were treated with spironolactone [14]. On the other hand, Knops et al .…”

Section: Discussionmentioning

confidence: 99%

Apparent mineralocorticoid excess: A diagnosis beyond classical causes of severe hypertension in a child

Gülhan¹,

Unsal

Baltu³

et al. 2022

Blood Pressure Monitoring

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“…Liddle syndrome is an AD condition resulting from a gain of function variant in SCNN1A/B which encode the alpha/beta subunits of the ENaC present in the CD [ 33 ]. Constitutive activation of this channel results in sodium and water reabsorption at the expense of potassium.…”

Section: Biochemical Presentationsmentioning

confidence: 99%

“…These children present with polyuria, polydipsia, failure to thrive and a hypokalaemic metabolic alkalosis with hypertension. This is again independent of aldosterone therefore renin and aldosterone are suppressed [ 32 , 33 ]. Another form is Geller syndrome due to a specific variant in NR3C2 which conveys agonism rather than antagonism of the mineralocorticoid receptor by progesterone and other steroid hormones thus resulting in early-onset hypertension that is aggravated in pregnancy [ 34 , 35 ].…”

Section: Biochemical Presentationsmentioning

confidence: 99%

A clinical approach to tubulopathies in children and young adults

2022

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Kidney tubules are responsible for the preservation of fluid, electrolyte and acid-base homeostasis via passive and active mechanisms. These physiological processes can be disrupted by inherited or acquired aetiologies. The net result is a tubulopathy. It is important to make a prompt and accurate diagnosis of tubulopathies in children and young adults. This allows timely and appropriate management, including disease-specific therapies, and avoids complications such as growth failure. Tubulopathies can present with a variety of non-specific clinical features which can be diagnostically challenging. In this review, we build from this common anatomical and physiological understanding to present a tangible appreciation of tubulopathies as they are likely to be clinically encountered among affected children and young adults.

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“…Patients with homozygous mutations display low birth weight, developmental retardation, unrelenting salt-sensitive hypertension in childhood. Nevertheless, those patients with heterozygous mutations usually show a mild or moderate phenotype, such as late-onset slight hypertension or staying normotensive, barely with electrolyte disturbances (34,35). Previously, a high ratio of urinary cortisol to cortisone (F/E) was considered a basis for AME diagnosis.…”

Section: Genetics Of Monogenic Hypertensionmentioning

confidence: 99%

Overview of Monogenic Forms of Hypertension Combined With Hypokalemia

Fan

Zhang

et al. 2021

Front. Pediatr.

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Hypertension is an important risk factor in many conditions and creates a heavy burden of disease and mortality globally. Polygenic hypertension is the most common form; however, it is increasingly recognized that monogenic hypertension is not rare, especially in patients with electrolyte disorders. Single genetic alterations are associated with plasma volume expansion and catecholamines/sympathetic excess with simultaneously increased potassium excretion in the urine and potassium intracellular shift. Early-onset refractory hypertension and profound hypokalemia are characteristics of monogenic hypertension. However, accumulated evidence shows the existence of phenotypic heterogeneity in monogenic hypertension meaning that, even for mild symptoms, clinicians cannot easily exclude the possibility of monogenic hypertension. Genetic, epigenetic and non-genetic factors are all possible mechanisms influencing phenotypic diversity. Genetic sequencing is a precise and efficient method that can broaden the mutant gene spectrum of the disease and is very helpful for understanding the pathophysiology of monogenic hypertension. Genetic sequencing, along with biochemical tests and imaging modalities, is essential for the early diagnosis and targeted management of monogenic hypertension to avoid long-term catastrophic complications.

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A rare cause of hypertension in childhood: Answers

Cited by 6 publications

References 13 publications

Apparent mineralocorticoid excess: A diagnosis beyond classical causes of severe hypertension in a child

Apparent mineralocorticoid excess: A diagnosis beyond classical causes of severe hypertension in a child

A clinical approach to tubulopathies in children and young adults

Overview of Monogenic Forms of Hypertension Combined With Hypokalemia

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