A National Survey Across Primary Care Pediatricians Regarding Immunization Views and Practices in Children With Rheumatic Diseases.

METHODS: Cross-sectional survey conducted with an anonymous questionnaire of 34 items distributed to pediatricians via an online platform. Four hundred questionnaires were sent, and 256 were returned and analyzed using STATA 13. Data collection included demographics, questions on knowledge, perceptions, and opinions, as well as advice given to families. RESULTS: The majority of doctors felt that vaccination in children with RDs is essential. Responders were using a variety of guidelines to reach a clinical decision. Fifty percent were hesitant to adhere to the national vaccination scheme without expert input. Reasons were as follows: not convinced from current literature that the vaccine is safe (32%), afraid to cause disease flare (43%), and unable to deal with parental concerns/refusal (54%). Twelve percent of responders felt that the RD may have been triggered by a vaccine. The majority (82%) of doctors were pro annual influenza vaccination. Seventy percent of doctors were keener to administer booster doses rather than primary ones. CONCLUSIONS: Variation in opinion and clinical practice exists. Overall, although general pediatricians are informed regarding efficacy and adverse effects of immunizations in patients with RDs, there are steps to be made from principle to practice. Vaccinating these children is of vital importance, and primary care pediatricians should be updated regarding existing guidelines referring to this field.

Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis.

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.