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

Lages, Adriana; Vale, Beatriz; Oliveira, Patricia; Cardoso, Rita; Dinis, Isabel; Carrilho, Francisco; Mirante, Alice

doi:10.20945/2359-3997000000107

Cited by 8 publications

(7 citation statements)

References 25 publications

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“…Most reported cases showed low Ald level in ASD patients, while in this paper we could find that all patients with ASD (P1-P4) showed inappropriate normal of Ald level, similar with the two patients respectively reported by Adriana de Sousa Lages, et al [18] and Niu li, et al [17]. The normal ald level in ASD patients may be the result of compensation of Ald secretion due to hyponatremia and hyperkalemia and neonatal hyperactivity of renin-angiotensin-aldosterone system [2].…”

Section: Discussionsupporting

confidence: 90%

Aldosterone signaling defect in young infants: single-center report and review

Wijaya

Zhang

et al. 2021

BMC Endocr Disord

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Background Aldosterone (Ald) is a crucial factor in maintaining electrolyte and water homeostasis. Defect in either its synthesis or function causes salt wasting (SW) manifestation. This disease group is rare, while most reported cases are sporadic. This study aimed to obtain an overview of the etiology and clinical picture of patients with the above condition and report our rare cases. Methods A combination of retrospective review and case studies was conducted at the Pediatric Endocrine unit of The First Affiliated Hospital Sun Yat Sen University from September 1989 to June 2020. Results A total of 187 patients with SW were enrolled, of which 90.4% (n = 169) were diagnosed with congenital adrenal hyperplasia (CAH). SW type 21-hydroxylase deficiency accounted for 98.8% (n = 167) of CAH diagnosis, while 1.2% (n = 2) was of lipoid CAH. Non-CAH comprised 9.6% (n = 18) of the total patients whose etiologies included SF-1 gene mutation (n = 1), X-linked adrenal hypoplasia congenita (n = 9), aldosterone synthase deficiency (ASD, n = 4), and pseudo-hypoaldosteronism type 1 (PHA1, n = 1). Etiologies were not identified in three patients. All of patients with ASD and PHA1 exhibited SW syndrome in their early neonatal period. DNA sequencing showed mutations of CYP11B2 for P1-P4 and NR3C2 for P5. P1 and P2 were sibling brothers affected by compound heterozygous mutations of c.1121G > A (p.R374Q) and c.1486delC p.(L496fs); likewise, P4 was identified with compound heterozygous mutations of c.1200 + 1G > A and c.240–1 G > T; meanwhile P3 demonstrated c.1303G > A p.(G435S) homozygous mutation in CYP11B2 gene. Lastly, P5 showed c.1768 C > T p.(R590*) heterozygous mutation in the NR3C2 gene. Conclusion Etiology of infant with aldosterone defect was mostly congenital. Renal and adrenal imaging are recommended to exclude renal causes. If clinical picture is suggestive, normal plasma Ald in early infancy cannot rule out aldosterone insufficiency.

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Section: Discussionsupporting

confidence: 90%

Aldosterone signaling defect in young infants: single-center report and review

Wijaya

Zhang

et al. 2021

BMC Endocr Disord

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“…2,[9][10][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. In the literature, there are few reported cases of congenital hypoaldosteronism, and to a lesser extent, we found none for patients with such prolonged loss of medical follow-up as our patient, as well as the results of late treatment on the growth pattern.…”

Section: Discussionmentioning

confidence: 99%

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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“…ASD is a rare case of hyperreninemic hypoaldosteronism inherited in an autosomal recessive pattern and caused by mutations in the CYP11B2 gene encoding the enzyme aldosterone synthase [10,56]. The CYP11B2 gene is located on chromosome 8q22p, band q24.3, approximately 40 kb away from the 93% -identical CYP11B1 gene encoding the 11 β-hydroxylase enzyme [57].…”

Section: Aldosterone Synthase Deficiencymentioning

confidence: 99%

Diagnosis of Hypoaldosteronism in Infancy

Vlachopapadopoulou¹,

Bonataki²

2021

Renin-Angiotensin Aldosterone System

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Hypoaldosteronism is associated with either insufficient aldosterone production or lack of responsiveness to aldosterone and can be isolated or in the context of primary adrenal failure. Τhe severity of clinical manifestations is inversely correlated to age, with the neonatal period being the most vulnerable time for a patient to present with mineralocorticoid insufficiency. Salt-wasting forms of congenital adrenal hyperplasia (CAH), adrenal hypoplasia congenita (AHC), aldosterone synthase deficiency (ASD) and pseudohypoaldosteronism (PHA) are all causes of hypoaldosteronism in infancy. Affected infants present with salt wasting, failure to thrive and potentially fatal hyperkalemia and shock. Α blood sample for the essential hormonal investigations should be collected before any steroid treatment is given, in order to confirm aldosterone insufficiency and to determine the underlying cause. Renal ultrasonography and urine culture are also useful for exclusion of secondary causes of aldosterone resistance. Initial management requires treatment of electrolyte imbalances and restoration of intravascular fluid volume. In case of a salt-wasting crisis, affected infants are usually treated initially with both hydrocortisone and fludrocortisone, pending the results of investigations. Interpretation of the hormonal profile will guide further therapy and molecular analysis of candidate genes.

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

Cited by 8 publications

References 25 publications

Aldosterone signaling defect in young infants: single-center report and review

Aldosterone signaling defect in young infants: single-center report and review

Congenital hyperreninemic hypoaldosteronism: A case report

Diagnosis of Hypoaldosteronism in Infancy

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