Suppression of Plasma Renin Activity in a Boy With Chronic Hyperkalemia

Sauder, Sue Ellyn

doi:10.1001/archpedi.1987.04460080108041

Cited by 7 publications

(5 citation statements)

References 25 publications

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“…It is worth noting that the low renin could also result from the chronic sustained hyperkalaemia and does not obligatorily reflect a volume‐expanded state 33 . In a normotensive 14‐year‐old boy with FHH, Sauder et al 34 reported that treatment with chlorothiazide and sodium chloride resulted in correction of the abnormal electrolyte concentrations, but serum aldosterone concentrations did not change significantly during treatment, even though plasma renin increased markedly. This observation suggested that serum K + concentration was the major stimulus of aldosterone secretion and that suppression of PRA was more likely due to hyperkalaemia than to extracellular volume expansion.…”

Section: Possible Molecular Mechanismsmentioning

confidence: 99%

Phenotypic And Genetic Heterogeneity Of Familial Hyperkalaemic Hypertension (Gordon Syndrome)

Achard

Disse-Nicodème

Fiquet‐Kempf

et al. 2001

Clin Exp Pharma Physio

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1. Familial hyperkalaemic hypertension (FHH), also called pseudohypoaldosteronism type II (PHA2) or Gordon syndrome, is a rare Mendelian-form of low-renin hypertension. The first cases of FHH were reported approximately 30 years ago and they described the peculiar biochemical abnormalities (i.e. hyperkalaemia and hyperchloraemic acidosis despite a normal glomerular filtration rate). 2. Since then, more than 90 single cases and families have been reported in the literature. These various reports show marked differences in phenotype. 3. Our group has now collected 14 unrelated pedigrees originating from different parts of France and Europe. We confirm the large variations in the age of discovery and in the severity of the biochemical abnormalities from one individual to another and from one family to another one. 4. Blood pressure levels have no significant relationship with hyperkalaemia or hyperchloraemia, but there is a positive relationship with age, as in the normal population. 5. Analyses of clinical features and Mendelian segregation in our families demonstrate autosomal-dominant inheritance, as expected from the literature. 6. Efforts have been made in the past years to unravel the gene responsible for the disease. Until now, a primary responsibility of the gene encoding the thiazide-sensitive Na-Cl cotransporter (SLC12A3) has been excluded in PHA2 families. Three loci have been identified on chromosomes 1 (PHA2A), 17 (PHA2B) and 12 (PHA2C). 7. More recently, analysis of three additional pedigrees, including 10 affected subjects, with over 25 members allowed us to demonstrate further genetic heterogeneity and the existence of at least a fourth locus. 8. The genetic heterogeneity of this syndrome, and thus the variety of molecular defects, suggests the role of either several new components of the same pathway, multiple aldosterone- regulated effectors or direct or indirect partners of the Na-Cl cotransporter.

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Section: Possible Molecular Mechanismsmentioning

confidence: 99%

Phenotypic And Genetic Heterogeneity Of Familial Hyperkalaemic Hypertension (Gordon Syndrome)

Achard

Disse-Nicodème

Fiquet‐Kempf

et al. 2001

Clin Exp Pharma Physio

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“…32 PRAN were used in 11 of the studies surveyed here and although some had a reduced kaliuretic response, in none was there a response greater than the normal controls. 3,5,[7][8][9][11][12][13]17,19,20 Therefore, given the hyperkalemia, these results indicate a mild degree of depression of ENaC function. This might have been expected to lead to a compensatory increase in activity of the major K + secretory mechanism, the renal outer medullary K + (ROMK) channels.…”

Section: Healymentioning

confidence: 99%

Pseudohypoaldosteronism Type II

Healy

2014

Hypertension

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K + during a NaHCO 3 infusion. As will be discussed below, we now know that there are 5 levels of severity of PHAII so that the response to PRAN may differ between individual cases. Given the hyperkalemia of these patients, one might have expected even a supranormal response to PRAN as seen below in the mouse model of PHAII.32 PRAN were used in 11 of the studies surveyed here and although some had a reduced kaliuretic response, in none was there a response greater than the normal controls. 3,5,[7][8][9][11][12][13]17,19,20 Therefore, given the hyperkalemia, these results indicate a mild degree of depression of ENaC function. This might have been expected to lead to a compensatory increase in activity of the major K + secretory mechanism, the renal outer medullary K + (ROMK) channels. 34,35 This might imply that ROMK also was not functioning normally (Figure, Theory 1).Another factor that could have suppressed the K + secretion, particularly ROMK, 31 was the acidosis, which is known to be because of hyperkalemia in PHAII. 5,7,11,12 If PHAII is reversed by drug treatment (thiazide) and the drug is stopped, the hyperkalemia returns in 10 days before a return of the acidosis at 17 days, 8 indicating the primacy of the hyperkalemia. If the ENaC is compromised to a degree, this period without acidosis would provide ROMK with a window of opportunity to control the rising plasma K + ; this clearly does not happen. DeFronzo et al 33 studied K + secretion in sickle cell disease that damages the renal papillae and the medulla. They found a negligible response in K + secretion to PRAN, yet hyperkalemia did not occur (average plasma K + , 3.78±0.01 mmol/L). This difference from PHAII might be explained by the fact that although ROMK shares the late DT, the connecting tubule and the collecting duct sites with ENaC, functioning isoforms ROMK 2 and 3 are present as well in the whole of the distal convoluted tubule (DCT). 34 Therefore, in sickle cell disease, these isoforms may have been intact in the DCT before the late DCT but perhaps not so in PHAII. PHAII and sickle cell disease cannot be compared pathologically, but these results reflect on the way the effects of PRAN are interpreted because they show that a negligible response in K + secretion to PRAN is not obligatorily associated with hyperkalemia in humans.Finally, Golbang et al 26 (see below) have described a father and son with PHAII caused by a mutant gene shown by genetic testing to inhibit ROMK substantially.The second view of the cause of hyperkalemia in PHAII is that a Cl -shunt may play a role 3 by increasing paracellular Cl -absorption in the early DT (Figure, Theory 2). Schambelan et al 3 in 1981 showed that with mineralocorticoid pretreatment, intravenous Na 2 SO 4 and NaHCO 3 could both invoke an increase in K + excretion in PHAII, but that intravenous sodium chloride (NaCl) was much less able to do so. They postulated that a Cl -shunt proximal to the ENaC would result in less Cl -delivery and thus less negativity at the ENaC, resulting in decreased K + sec...

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“…Os estudos também relataram elevados níveis de potássio em pacientes com disfunção renal com causa genética. A hipercalemia nesses casos foi devida a uma complicação da síndrome de Batter, que induziu hipercalemia sem acidose e um dos pacientes evoluiu para o óbito (FINER et al, 2003), e por um defeito na excreção tubular do potássio (SAUDER, 1987). Óbito também foi relatado em paciente com pseudohipoaldosteronismo secundário devido a síndrome de Prune-Belly, uma doença congênita rara (KORKUT et al, 2019).…”

Section: Discussionunclassified

Análise Epidemiológica E O Rastreio De Vacinação De Sarampo No Brasil Durante a Pandemia Do Novo Coronavírus (Sars-Cov-2) No Ano De 2020

Rezende¹

2021

Ciências Da Saúde: Aprendizados, Ensino E Pesquisa No Cenário Contemporâneo

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Ciências da saúde: aprendizados, ensino e pesquisa no cenário contemporâneo está licenciado sob CC BY 4.0.Esta licença exige que as reutilizações deem crédito ao criador. Ele permite que os reutilizadores distribuam, remixem, adaptem e construam o material em qualquer meio ou formato, mesmo para fins comerciais. O conteúdo da obra e seus dados em sua forma, correção e confiabilidade são de responsabilidade exclusiva dos autores, não representando a posição oficial da Editora Amplla. É permitido o download da obra e o compartilhamento desde que sejam atribuídos créditos aos autores. Todos os direitos para esta edição foram cedidos à Editora Amplla.

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Suppression of Plasma Renin Activity in a Boy With Chronic Hyperkalemia

Cited by 7 publications

References 25 publications

Phenotypic And Genetic Heterogeneity Of Familial Hyperkalaemic Hypertension (Gordon Syndrome)

Phenotypic And Genetic Heterogeneity Of Familial Hyperkalaemic Hypertension (Gordon Syndrome)

Pseudohypoaldosteronism Type II

Análise Epidemiológica E O Rastreio De Vacinação De Sarampo No Brasil Durante a Pandemia Do Novo Coronavírus (Sars-Cov-2) No Ano De 2020

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