Browsing by Author "Terauda, Ruta"

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    GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease
    (2021-06-23) Kovale, Sabine; Terauda, Ruta; Millere, Elina; Taurina, Gita; Murmane, Daiga; Isakova, Jekaterina; Kenina, Viktorija; Gailite, Linda; Scientific Laboratory of Molecular Genetics
    X-linked Charcot-Marie-Tooth (CMT) disease type I (CMTX1) is the second most frequent type of CMT disease caused by pathogenic variants in the GJB1 gene. We described 2 extended cases (families) with CMTX1 with identified pathogenic variants - p.Val139Met and p.Arg215Trp. In both the families, neurological symptoms started earlier in male than in female patients. In some family members, molecular diagnostics was performed prior to neurological investigation due to family cascade screening. There was variable neurological phenotype representing CMT. Conclusions: There is a large clinical heterogeneity in CMTX, even amongst the family members.
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    Graves’ disease as a manifestation of immune reconstitution inflammatory syndrome in an HIV-1-infected adolescent patient : A case report
    (2022-06) Kornete, Liga; Terauda, Ruta; Sausa, Sintija; Dzivite-Krisane, Iveta; Melderis, Ivars; Sitkare, Valentina; Rozentale, Baiba; Zakis, Davis Rudolfs; Rīga Stradiņš University
    Introduction: Although Graves' disease (GD) is the most common cause of hyperthyroidism in adolescents, it is very rare for it to result from the production of thyroid-stimulating hormone (TSH) receptor autoantibodies due to Graves' immune reconstitution inflammatory syndrome (IRIS). Especially for paediatric patients, very little is known about the aetiology and complete pathogenesis of Graves’ IRIS. Furthermore, details of a valid treatment plan are severely lacking. The case report presented here is only the third for paediatric patients worldwide. Case presentation: We report on a Caucasian female adolescent who initially presented with non-specific complaints about discomfort and tightness in the anterior part of the neck and thyroid enlargement. Based on clinical, laboratory and thyroid ultrasound findings, she was diagnosed with GD. However, after several months of outpatient treatment, the patient's GD could still not be fully managed with conservative therapy alone. Only when the patient was hospitalized for the third time was it discovered that she had previously been diagnosed with human immunodeficiency virus infection and had received highly active antiretroviral therapy (HAART) for the previous 29 months. Consequently, the production of autoantibodies to TSH receptors and abnormal changes in thyroid hormones had led to the development of GD and her final diagnosis was established as Graves' IRIS. Ultimately, a total thyroidectomy was performed. Discussion/conclusion: This case report demonstrates how fundamentally important it is to have full access to a patient's complete anamnesis and results of all previous investigations. Clinicians should be made aware of the potential existence of thyroid dysfunction and other autoimmune or infectious processes in paediatric patients initiating or reinitiating HAART. Further research is needed to optimize the treatment for such paediatric patients.