A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis

Bertulli, Cristina; Hureaux, Marguerite; Mutiis, Chiara De; Pasini, Andrea; Böckenhauer, Detlef; Vargas‐Poussou, Rosa; Scola, Claudio La

doi:10.3390/children7110212

Cited by 8 publications

(4 citation statements)

References 30 publications

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“…There was also a suspicion that the patient's presentation could be related to Liddle syndrome; however, the development of hypertension and hypokalemia during pregnancy and resolution thereafter inclined more toward the diagnosis of Geller syndrome. Reasons for not considering the other conditions that can present with hypertension and refractory hypokalemia as the cause of our patient's presentation are listed in Table 2 [ 1 , 4 , 8 ].…”

Section: Discussionmentioning

confidence: 99%

“…Gitelman and Bartter syndrome can cause refractory hypokalemia as well; however, patients who are diagnosed with these syndromes have normal or low blood pressure with elevated renin and aldosterone levels [ 8 , 9 ]. Genetic testing remains the gold standard for confirmation of the diagnosis [ 1 ]; unfortunately, this was unavailable for our patient.…”

Section: Discussionmentioning

confidence: 99%

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Geller Syndrome: A Rare Cause of Persistent Hypokalemia During Pregnancy

Hindosh¹,

Hindosh²,

Dada³

et al. 2022

Cureus

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Geller syndrome is a rare disease and part of Mendelian forms of hypertension. This syndrome is caused by a mutation in the mineralocorticoid receptor with a resultant gain of function. It is characterized by hypertension and hypokalemia, which is exacerbated by the effect of progesterone and thereby presenting during pregnancy. Our patient is a 22-year-old female diagnosed with preeclampsia who presented with hypokalemia, refractory to treatment toward the end of her third trimester. The patient's hypokalemia resolved once she delivered her infant. Genetic testing is available, which can confirm the diagnosis of Geller syndrome. The management is supportive therapy and requires close monitoring of the patient and her fetus. Delivery of the fetus results in the resolution of both hypertension and hypokalemia.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Geller Syndrome: A Rare Cause of Persistent Hypokalemia During Pregnancy

Hindosh¹,

Hindosh²,

Dada³

et al. 2022

Cureus

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“…Both mutations are characterized to result in Glu115 deletion, Leu116 deletion, a truncated 11 β HSD2 protein production, and Phe367 deletion. Moreover, Bertulli et al [ 28 ] reported that a novel homozygous frameshift variant in exon 5, c.900 dup, was found in a child with AME. In six affected patients from an Omani family, Yau et al [ 27 ] revealed that a homozygous c.799A > G mutation within exon 4 of the HSD11B2 gene is causing NAD misalignment under p.T267A substitution.…”

Section: Genetics Of Hypertensionmentioning

confidence: 99%

Summary of Known Genetic and Epigenetic Modification Contributed to Hypertension

Pratamawati

Alwi

Asmarinah

2023

International Journal of Hypertension

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Hypertension is a multifactorial disease due to a complex interaction among genetic, epigenetic, and environmental factors. Characterized by raised blood pressure (BP), it is responsible for more than 7 million deaths per annum by acting as a leading preventable risk factor for cardiovascular disease. Reports suggest that genetic factors are estimated to be involved in approximately 30 to 50% of BP variation, and epigenetic marks are known to contribute to the initiation of the disease by influencing gene expression. Consequently, elucidating the genetic and epigenetic mediators associated with hypertension is essential for better discernment of its pathophysiology. By deciphering the unprecedented molecular hypertension basis, it could help to unravel an individual’s inclination towards hypertension which eventually could result in an arrangement of potential strategies for prevention and therapy. In the present review, we discuss known genetic and epigenetic drivers that contributed to the hypertension development and summarize the novel variants that have currently been identified. The effect of these molecular alterations on endothelial function was also presented.

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“…Severe AME is known to be correlated with IUGR since the deficiency of the 11β-HSD2 enzyme allows excessive amounts of maternal glucocorticoid to cross the placental barrier resulting in inhibition of fetal growth. 23…”

Section: Iugr Vs Hsd11b2 Gene Alterationmentioning

confidence: 99%

Alteration in 11 Beta-Hydroxysteroid Dehydrogenase Type-2 (HSD11B2) Gene as A Potential Candidate Parameter for Early Detection of Intrauterine Growth Restriction (IUGR) Events

Jusni

Patricia

Rosadi

2021

Mol Cell Biomed Sci

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Intrauterine Growth Restriction (IUGR) incidence in Indonesia ranks in the top 10 of the highest in Asia. It is the main perinatal death cause. IUGR also impairs fetal neurodevelopment, which can affect the development of children until later ages. Lack of 11β-hydroxysteroid dehydrogenase type-2 (11β-HSD2) enzyme is influenced by changes in the coding gene, HSD11B2, one of IUGR's causes. The main diagnostic method of IUGR at this time is by using Doppler ultrasound. However, Doppler ultrasound has several limitations as many cases are not detected. Its clinical predictive value in various women is poor, as Doppler ultrasound is not recommended for use in the first trimester, detection of abnormalities in the second trimester seems to be too late for helpful interventions. The study aim is to present an overview concerning HSD11B2 gene alteration in an non-invasive prenatal testing (NIPT) as a possible diagnostic parameter for early detection in IUGR infants. This literature review is based on selected articles and studies taken from the Pubmed, Proquest, and EBSCO databases. A total of 4 studies reported the tendency for DNA methylation and decreased expression of the HSD11B2 gene in IUGR cases. Changes in the HSD11B2 gene have the potential to become a diagnostic parameter in the early detection of infants with IUGR. Further study and investigation of this possibility are needed.Keywords: intrauterine growth restriction, HSD11B2, early detection, diagnostic, non-invasive prenatal testing

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A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis

Cited by 8 publications

References 30 publications

Geller Syndrome: A Rare Cause of Persistent Hypokalemia During Pregnancy

Geller Syndrome: A Rare Cause of Persistent Hypokalemia During Pregnancy

Summary of Known Genetic and Epigenetic Modification Contributed to Hypertension

Alteration in 11 Beta-Hydroxysteroid Dehydrogenase Type-2 (HSD11B2) Gene as A Potential Candidate Parameter for Early Detection of Intrauterine Growth Restriction (IUGR) Events

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