Hipoaldosteronismo primario e hipoacusia bilateral moderada en un niño con una mutación sin sentido en homocigosis (Thr318Met) en el gen  CYP11B2

Rubio-Cabezas, Óscar; Regueras, L.; Muñoz-Calvo, M.T.; Bartolomé, Margarita; Pozo, Juan Ignacio; Argente, Jesús

doi:10.1016/j.anpedi.2010.04.008

Cited by 3 publications

(7 citation statements)

References 6 publications

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“…Correspondingly, case reports such as Dr. Sethupathi’s group show that hormone replacement is not the only determinant to normalize biochemical variables but also allows for adequate and continuous weight gain and improvement in developmental milestones at an early age. 2 , 9 – 11 Similar results were demonstrated by the study of Dr. H. Miao and collaborators, who present the case of a Chinese patient with congenital hypoaldosteronism in whom mineralocorticoid replacement started at 12 months of age at a dose of 75 µg per day; 5 months later, he recovered growth velocity. 2 On the other hand, a case report of Lages et al, 6 involving a Portuguese patient with ASD type I in whom fludrocortisone replacement therapy was given at 54 days old at a dose of 75 µg per day, allowed weight and height recovery during a 6-year follow-up period.…”

Section: Discussionsupporting

confidence: 76%

“…5 However, hormonal replacement dose is debatable, since studies as the Rubio-Cabezas' group propose up to 25 µg/kg/day, Dr. Sethupathi's group used a dose of 12 µg/kg/day while Dr. White's proposes schedules between 100 and 300 µg per day. 5,[9][10][11] But all of them started the medication during the first months of life. Correspondingly, case reports such as Dr. Sethupathi's group show that hormone replacement is not the only determinant to normalize biochemical variables but also allows for adequate and continuous weight gain and improvement in developmental milestones at an early age.…”

Section: Discussionmentioning

confidence: 99%

“…[1][2][3][4] Mineralocorticoid replacement was started in our patient and maintained within a year, with improved symptoms, resolution of electrolyte disturbances, and weight gain. 9 Among several studies, research has demonstrated the effects of hormone replacement in the biochemical variables implicated in hyperreninemic hypoaldosteronism, as well as in clinical variables such as height and weight. 4 The Kayes-Wendover study includes five patients with clinical manifestations of hydro-saline crisis and failure to thrive associated with a marked elevation of PRA and low or inappropriately normal levels.…”

Section: Discussionmentioning

confidence: 99%

“…1 – 4 Mineralocorticoid replacement was started in our patient and maintained within a year, with improved symptoms, resolution of electrolyte disturbances, and weight gain. 9 …”

Section: Discussionmentioning

confidence: 99%

“… 5 However, hormonal replacement dose is debatable, since studies as the Rubio-Cabezas’ group propose up to 25 µg/kg/day, Dr. Sethupathi’s group used a dose of 12 µg/kg/day while Dr. White’s proposes schedules between 100 and 300 µg per day. 5 , 9 – 11 But all of them started the medication during the first months of life.…”

Section: Discussionmentioning

confidence: 99%

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Congenital hyperreninemic hypoaldosteronism: A case report

Yupanqui,

Schrader-Florez,

López-Ramírez

et al. 2023

SAGE Open Medical Case Reports

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Congenital hypoaldosteronism is a rare autosomal recessive or dominant endocrinopathy with variable penetrance, secondary to primary defects in aldosterone synthesis that could lead to hypovolemia, hyponatremia, hyperkalemia, failure to thrive, microcephaly, seizures, neurodevelopmental delay, or hearing loss. We present the case of a Colombian patient with congenital hypoaldosteronism, who owns two variants in the CPY11B2 gene, and a heterozygous pathogenic variant for nonclassical congenital adrenal hyperplasia. However, the patient missed follow-up and treatment for 6 years. At the age of 7 years, he resumed medical follow-up with laboratory findings of hyperreninemia and hypoaldosteronism, as well as clinical findings of strabismus, left mixed hyperacusis, and pathological short stature (−4.3 SD). Therefore, a trial of fludrocortisone therapy was started with subsequent improvement in renin levels, weight gain, and growth velocity. After 10 months of the start of the medication, he presented hypertension. There is no literature about the late treatment of this condition for pathological short stature.

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Section: Discussionsupporting

confidence: 76%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…1 – 4 Mineralocorticoid replacement was started in our patient and maintained within a year, with improved symptoms, resolution of electrolyte disturbances, and weight gain. 9 …”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Congenital hyperreninemic hypoaldosteronism: A case report

Yupanqui,

Schrader-Florez,

López-Ramírez

et al. 2023

SAGE Open Medical Case Reports

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Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia

Hasenmajer

Ferrigno

Minnetti

et al. 2023

Rev Endocr Metab Disord

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Adrenal insufficiency (AI) is a severe endocrine disorder characterized by insufficient glucocorticoid (GC) and/or mineralocorticoid (MC) secretion by the adrenal glands, due to impaired adrenal function (primary adrenal insufficiency, PAI) or to insufficient adrenal stimulation by pituitary ACTH (secondary adrenal insufficiency, SAI) or tertiary adrenal insufficiency due to hypothalamic dysfunction. In this review, we describe rare genetic causes of PAI with isolated GC or combined GC and MC deficiencies and we also describe rare syndromes of isolated MC deficiency. In children, the most frequent cause of PAI is congenital adrenal hyperplasia (CAH), a group of adrenal disorders related to steroidogenic enzyme deficiencies, which will not be included in this review. Less frequently, several rare diseases can cause PAI, either affecting exclusively the adrenal glands or with systemic involvement. The diagnosis of these diseases is often challenging, due to the heterogeneity of their clinical presentation and to their rarity. Therefore, the current review aims to provide an overview on these rare genetic forms of paediatric PAI, offering a review of genetic and clinical features and a summary of diagnostic and therapeutic approaches, promoting awareness among practitioners, and favoring early diagnosis and optimal clinical management in suspect cases.

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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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Hipoaldosteronismo primario e hipoacusia bilateral moderada en un niño con una mutación sin sentido en homocigosis (Thr318Met) en el gen CYP11B2

Cited by 3 publications

References 6 publications

Congenital hyperreninemic hypoaldosteronism: A case report

Congenital hyperreninemic hypoaldosteronism: A case report

Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia

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

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