Genetic Testing for Familial Hypercholesterolemia in a Pediatric Group: A Romanian Showcase

Constantin, Andreea Teodora; Streata, Ioana; Covăcescu, Mirela Silvia; Riza, Anca Lelia; Roșca, Ioana; Delia, Corina; Tudor, Lucia Maria; Dorobanțu, Ștefania; Dragoș, Adina; Ristea, Diana; Ioana, Mihai; Gherghina, Ioan

doi:10.3390/diagnostics13121988

Cited by 2 publications

(2 citation statements)

References 92 publications

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“…These phases are not necessarily sequential, nor mandatory for all patients; sometimes, a reversion to an earlier phase is noted. Host and viral factors; coinfection with other viruses such as hepatitis C virus (HCV), hepatitis D virus (HDV) or human immunodeficiency virus (HIV); family history; and other comorbidities, including obesity, can affect the natural course of HBV infection [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 ]. Another important thing to mention is that the covalently closed circular HBV-DNA (cccDNA) persists indefinitely in hepatocytes, and low-level viral replication or re-activation in some circumstances is possible; at the same time, the HBV genome may integrate in the host genome, generating risk for hepatocarcinoma (HCC) [ 13 , 14 , 15 ].…”

Section: Introductionmentioning

confidence: 99%

Hepatitis B in Pediatric Population: Observational Retrospective Study in Romania

Păcurar,

Dinulescu,

Jugulete

et al. 2024

Life

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Hepatitis B virus (HBV) is a frequent cause of chronic hepatitis worldwide, with an estimated 5.6 million children under 5 years being infected. In Romania, there are no available epidemiology reports on large cohorts in children. We aimed to assess the profile of pediatric chronic HBV infection in southern Romania. We conducted an observational retrospective study on 506 HBV-infected children. Based on alaninaminotransferase (ALT), HBV serology and viremia, we identified four states of the disease. We correlated age, gender, household HBV infection, coinfection with other viruses and laboratory parameters. Most patients were in a positive HBV envelope antigen (HBeAg) immune-active state (65.4%). Age at diagnosis was significantly lower for those with household infection (p < 0.05). ALT values were not significantly different between positive or negative HBeAg patients in the immune-active state (p = 0.780). ALT values were higher in patients with hepatitis D virus (HDV)-associated infection (p < 0.001). Children with a household HBV infection had a high viraemia more frequently when compared to those with no infected relative (79.3% vs. 67.4%) (p < 0.001), but the ALT values were not significantly different (p = 0.21). Most of the patients are in an immune-active state (high ALT, high viremia). The percentages of HBV- and HDV-associated infections are high, but lower than the reported prevalence in Romania in the general population.

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Section: Introductionmentioning

confidence: 99%

Hepatitis B in Pediatric Population: Observational Retrospective Study in Romania

Păcurar,

Dinulescu,

Jugulete

et al. 2024

Life

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“…Last but not least, sometimes the LDLr is not recycled back into the cell surface [ 54 , 55 ]. Recently, we published a study from our clinic investigating the genetic diagnosis of FH in 20 pediatric patients [ 56 ]. In that study, 8 out of 20 patients had genetic confirmation for FH.…”

Section: Discussionmentioning

confidence: 99%

Dyslipidemia in Pediatric Patients: A Cross-Sectional Study

et al. 2023

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There is an increasing interest in dyslipidemia in adult patients since it is known to contribute to early cardiovascular disease. Often, dyslipidemia starts in childhood, and it is associated with aggravating lifestyle choices concerning eating habits, such as the tendency to consume processed food and fast food, as well as the tendency to be more and more sedentary. We conducted a retrospective cross-sectional study describing the prevalence of dyslipidemia in a single medical center in Romania and the associated pathology. We evaluated all lipid profiles that were ordered in our clinic over nine years. We included 2413 patients that were evaluated in our clinic in the timeframe 2011–2020. Out of them, 18.23% had high values for LDL-cholesterol. More than a quarter (25.91%) were diagnosed with obesity. 11.37% of the patients with high LDL-cholesterol levels had various metabolic disorders including primary dyslipidemia. A small number of patients with hypercholesterolemia had thyroid disorders (4.10%). Patients with high LDL-cholesterol had various diagnoses ranging from metabolic to neurologic disorders, keeping in mind that there are multiple pathologies that can lead to dyslipidemia. Evaluating children for dyslipidemia is at hand for medical professionals. Screening for dyslipidemia in children would provide the opportunity to prevent rather than treat cardiovascular events.

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Genetic Testing for Familial Hypercholesterolemia in a Pediatric Group: A Romanian Showcase

Cited by 2 publications

References 92 publications

Hepatitis B in Pediatric Population: Observational Retrospective Study in Romania

Hepatitis B in Pediatric Population: Observational Retrospective Study in Romania

Dyslipidemia in Pediatric Patients: A Cross-Sectional Study

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