Τίτλος:
Aldosterone synthase deficiency type II: An unusual presentation of the first Greek case reported with confirmed genetic analysis
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Objective. Aldosterone synthase deficiency (ASD) is a rare, autosomal recessive inherited disease with an overall clinical phenotype of failure to thrive, vomiting, severe dehydration, hyperkalemia, and hyponatremia. Mutations in the CYP11B2 gene encoding aldosterone synthase are responsible for the occurrence of ASD. Defects in CYP11B2 gene have only been reported in a limited number of cases worldwide. Due to this potential life-threatening risk, comprehensive hormonal investigation followed by genetic confirmation is essential for the clinical management of offsprings. Case presentation. We herein describe an unusual case of ASD type II in a neonate with faltering growth as a single presenting symptom. To our knowledge, this is the first Greek case of ASD type II reported with confirmed genetic analysis. Next generation sequencing of her DNA revealed the homozygous mutation p.T185I (ACC-ATC) (c.554C>T) (g.7757C>T) in exon 3 of the CYP11B2 gene in the neonate, inherited from both parents who were heterozygotes for the mutation. Conclusions. Physicians handling neonates with faltering growth, particularly in the initial six weeks of life, should be suspicious of mineralocorticoid insufficiency either as isolated hypoaldosteronism or in the context of congenital adrenal hyperplasia. Essential investigations should be performed and appropriate treatment should be administered promptly without awaiting for the hormonal profile results. Interpretation of the clinical picture and the hormonal profile will guide the analysis of candidate genes. Primary selective hypoaldosteronism is a rare, life threatening disease, but still with an unknown overall population impact. Thus, reporting cases with confirmed gene mutations is of major importance. © 2020 Stayroula Papailiou et al., published by Sciendo 2020.
Συγγραφείς:
Papailiou, S.
Vlachopapadopoulou, E.A.
Sertedaki, A.
Maritsi, D.
Syggelos, N.
Syggelou, A.
Περιοδικό:
Endocrine Regulations
Λέξεις-κλειδιά:
aldosterone synthase; fludrocortisone; potassium; sodium; aldosterone synthase, adrenal insufficiency; aldosterone synthase deficiency type II; Article; body growth; case report; clinical article; clinical examination; crystalloid; electrolyte blood level; electrolyte urine level; failure to thrive; gene mutation; genetic analysis; genetic counseling; genetic disorder; genotype; high throughput sequencing; hormone substitution; human; hyperpigmentation; hypoaldosteronism; intravascular volume; metabolic acidosis; phenotype; prevalence; primary hyperaldosteronism; psychomotor development; whole exome sequencing; female; genetic screening; genetics; Greece; heterozygote; hypoaldosteronism; newborn; single nucleotide polymorphism, Cytochrome P-450 CYP11B2; Female; Genetic Testing; Greece; Heterozygote; Humans; Hypoaldosteronism; Infant, Newborn; Polymorphism, Single Nucleotide
DOI:
10.2478/enr-2020-0025
