ESPE2023 Poster Category 2 Adrenals and HPA Axis (37 abstracts)
Primary hypoaldosteronism due to aldosterone synthase deficiency in a small for gestational age born infant
Aleksandra Janchevska 1 , Velibor Tasic 1 , Simona Antonievska 1 , Ivana Bujarovska 1 , Blagorodna Iliev 1 , Darko Daniloski 1 , Olivera Jordanova 1 , Zoran Gucev 1 & Dijana Plaseska-Karanfilska 2
1University Children's Hospital, Medical Faculty, Skopje, Macedonia, the former Yugoslav Republic of. 2Research Center for Genetic Engineering and Biotechnology „Georgi D. Efremov“, Skopje, Macedonia, the former Yugoslav Republic of
Key words: Primary hypoaldosteronism, aldosterone synthase deficiency, salt-wasting, failure to thrive, CYP11B2 gene mutation
Introduction: Aldosterone synthase deficiency is a rare autosomal recessive inherited disorder. The patients carry mutations in the CYP11B2 gene. It is primary hypoaldosteronism presented in early childhood with electrolyte abnormalities (hyponatremia, hyperkalemia, and metabolic acidosis), vomiting, salt-wasting, failure to thrive and impaired growth.
Patient and Methods: A 2-month-old female infant, born in term (40th gestational week), but small for gestational age (SGA) (birth weight -2.10 SDS and birth length -2.20 SDS), presented with failure to thrive and poor weight gain (-2.71 SDS), vomiting and moderate dehydration. The diagnostic assessment included a clinical examination, biochemical and hormonal investigations, followed by the imaging study and molecular analyses.
Results: The laboratory analyses revealed hyperkalemia (8.6 mmol/l), hyponatremia (128 mmol/l), and metabolic acidosis (pH 7.26, HCO3 16.8 mmol/l, BE -9.5 mmol/l), with elevated rennin (5293.00 ng/l) and low aldosterone concentration (28.6 ng/l). The targeted massive parallel exon sequencing analysis revealed a homozygous pathogenic variant, (c.554C>T; p. Thr185Ile) in exon 3 of the CYP11B2 gene. Both parents are heterozygous carriers of the same variant. The parenteral rehydration and mineralocorticoid replacement treatment resolved the electrolyte imbalances and gradually increased weight gain.
Conclusions: Herein we present an SGA born infant with a rare isolated hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency. The detected pathogenic variant in the CYP11B2 gene in our patient is common for patients with hypoaldosteronism from the Southern Balkan region. Adequate and timely mannered diagnostic assessment and monitoring in these patients are not only necessary for the therapeutic approach, but also lifesaving.
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Abstracts
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more