Déficit en aldostérone-synthase : 4 observations pédiatriques

Collinet, E.; Pélissier, P.; Richard, Olivier; Pugeat, Michel; Morel, Yves; Stéphan, Jean Louis

doi:10.1016/j.arcped.2012.08.018

Cited by 6 publications

(5 citation statements)

References 11 publications

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“…Typically, the disease manifests in the first weeks of life with nausea, vomiting, feeding problems and failure to thrive in the neonatal period. Isolated aldosterone deficiency is associated with neonatal salt-wasting syndrome resulting in hyponatremia, hyperkalaemia, metabolic acidosis and marked elevated renin with low or unappropriated normal aldosterone levels (4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15). Usually, clinical severity improves with age and patients are frequently asymptomatic during adulthood despite not having mineralocorticoid therapy (16).…”

Section: Introductionmentioning

confidence: 99%

Congenital hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency type I in a Portuguese patient – Case report and review of literature

Lages¹,

Vale²,

Oliveira³

et al. 2019

Archives of Endocrinology and Metabolism

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Hyperreninemic hypoaldosteronism due to aldosterone synthase (AS) deficiency is a rare condition typically presenting as salt-wasting syndrome in the neonatal period. A one-month-old Portuguese boy born to non-consanguineous parents was examined for feeding difficulties and poor weight gain. A laboratory workup revealed severe hyponatremia, hyperkaliaemia and high plasma renin with unappropriated normal plasma aldosterone levels, raising the suspicion of AS deficiency. Genetic analysis showed double homozygous of two different mutations in the CYP11B2 gene: p.Glu198Asp in exon 3 and p.Val386Ala in exon 7. The patient maintains regular follow-up visits in endocrinology clinics and has demonstrated a favourable clinical and laboratory response to mineralocorticoid therapy. To our knowledge, this is the first Portuguese case of AS deficiency reported with confirmed genetic analysis.

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Section: Introductionmentioning

confidence: 99%

Congenital hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency type I in a Portuguese patient – Case report and review of literature

Lages¹,

Vale²,

Oliveira³

et al. 2019

Archives of Endocrinology and Metabolism

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“…Clinical presentation of CMOD varies by age. Since ions cross the placental barrier, despite congenital enzyme deficiency, there are no symptoms during fetal life ( 6 ). Infants with a mineralocorticoid synthesis defect may show signs of salt-wasting within the first few days or weeks of life.…”

Section: Discussionmentioning

confidence: 99%

“…CMO deficiency (CMOD) type 2 is a rare disorder with unknown prevalence. A particularly high population density of CMOD type 2 was identified in Iranian Jews from the city Isfahan ( 5 ), but the disease has been documented throughout Europe and North America ( 6 , 7 ).…”

Section: Introductionmentioning

confidence: 99%

Clinical and Genetic Characteristics of Patients with Corticosterone Methyloxidase Deficiency Type 2: Novel Mutations in <i>CYP11B2</i>

Turan

Çakır

Özer

et al. 2021

Jcrpe

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Corticosterone methyloxidase deficiency type 2 is an autosomal recessive disorder presenting with salt loss and failure to thrive in early childhood and is caused by inactivating mutations of the CYP11B2 gene. Herein, we describe four Turkish patients from two families who had clinical and hormonal features compatible with corticosterone methyloxidase deficiency and all had inherited novel CYP11B2 variants. All of the patients presented with vomiting, failure to thrive and severe dehydration, except one patient with only failure to thrive. Biochemical studies showed hyponatremia, hyperkalemia and acidosis. All patients had normal cortisol response to adrenocorticotropic hormone stimulation test and had elevated plasma renin activity with low aldosterone levels. Three patients from the same family were found to harbor a novel homozygous variant c.1175T>C (p.Leu392Pro) and a known homozygous variant c.788T>A (p.Ile263Asn) in the CYP11B2 gene. The fourth patient had a novel homozygous variant c.666_667delCT (p.Phe223ProfsTer35) in the CYP11B2 gene which caused a frame shift, forming a stop codon. Corticosterone methyloxidase deficiency should be considered as a differential diagnosis in patients presenting with hyponatremia, hyperkalemia and growth retardation, and it should not be forgotten that this condition is life-threatening if untreated. Genetic analyses are helpful in diagnosis of the patients and their relatives. Family screening is important for an early diagnosis and treatment. In our cases, previously unreported novel variants were identified which are likely to be associated with the disease.

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“…Conversely, recent data from literature demonstrate that this condition needs lifelong treatment. In fact, the precarious metabolic stability gives rise to the risk of life-threatening metabolic disequilibrium in case of dehydration from various causes and when perfect performance of the renal system is required to control the hydroelectrolytic status [15]. Furthermore, despite the fact that discontinuation of treatment had no consequences on the electrolytes, acid-base or water balance, the very significant increase in the renin activity, as happened in Case 1, could cause renal disease, due to high angiotensin levels which, according to recent studies, produces glomerulosclerosis [16,17].…”

Section: Discussionmentioning

confidence: 99%

Isolated aldosterone deficiency in two infants: Mistakes and dilemmas in the diagnosis and treatment of a rare disease

Pela¹,

Capirchio²,

Menchini³

et al. 2013

OJPed

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In this article, we describe the clinical picture and follow-up of two children diagnosed as suffering from pseudohypoaldosteronism when they were infants, and it was later recognized as isolated aldosterone deficiency in both. We illustrate the clinical differences between the two patients in terms of hydroelectrolytic balance, laboratory data and growth. In fact, while the growth and hematological parameters of the electrolytes and acid-base balance were normal in the first patient, and also without treatment with fludrocortisone thanks to very high renin activity, in the second patient, this treatment was vitally necessary to maintain normal growth and biochemical data. Despite the absence of a molecular analysis which could have confirmed this diagnosis, we believe that the description of the clinical evolution of these two cases from the moment of the incorrect diagnosis until the correct diagnosis and action taken, could be useful to highlight the extreme clinical variability of this rare disease.

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Déficit en aldostérone-synthase : 4 observations pédiatriques

Cited by 6 publications

References 11 publications

Congenital hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency type I in a Portuguese patient – Case report and review of literature

Congenital hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency type I in a Portuguese patient – Case report and review of literature

Clinical and Genetic Characteristics of Patients with Corticosterone Methyloxidase Deficiency Type 2: Novel Mutations in <i>CYP11B2</i>

Isolated aldosterone deficiency in two infants: Mistakes and dilemmas in the diagnosis and treatment of a rare disease

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