Genetic testing in pediatrics - a narrative essay of challenges and possibilities in Romania

Duicu, Carmen

doi:10.2478/rrlm-2019-0041

Cited by 3 publications

(3 citation statements)

References 23 publications

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“…Diagnosis of index cases of Fabry disease is usually delayed and rarely occurs during childhood, and this is due to the lack of specific symptoms ( 62 , 85 ). The diagnosis of Fabry disease in a proband should include immediately a clinical examination, but also a biochemical and genetic investigation of the relatives both in males and females gender ( 8 ).…”

Section: Diagnosis Of Fabry Diseasementioning

confidence: 99%

“…The initiation of ERT therapy as early as possible gives the best clinical outcome and ERT's effect depends on the stage of the disease ( 85 ). Prevention and early specific therapy, ERT, are important, as they may slow progressive symptomatic organ complications, improve quality of life and in later life, improve both morbidity and mortality, and preserve life expectancy.…”

Section: Effects Of Currently Available Therapies On Renal Symptomsmentioning

confidence: 99%

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Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease

et al. 2022

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Inherited renal diseases represent 20% of the causes of end-stage renal diseases. Fabry disease, an X-linked lysosomal storage disorder, results from α-galactosidase A deficient or absent activity followed by globotriaosylceramide (Gb3) accumulation and multiorgan involvement. In Fabry disease, kidney involvement starts early, during intrauterine life by the Gb3 deposition. Even if chronic kidney disease (CKD) is discovered later in adult life in Fabry disease patients, a decline in glomerular filtration rate (GFR) can occur during adolescence. The first clinical sign of kidney involvement is represented by albuminuria. So, early and close monitoring of kidneys function is required: albuminuria and proteinuria, urinary albumin-to-creatinine ratio, serum creatinine, or cystatin C to estimate GFR, while urinary sediment with phase-contrast microscopy under polarized light may be useful in those cases where leucocyte α-Gal A activity and GLA genotyping are not available. Children with Fabry disease and kidney involvement should receive enzyme replacement therapy and nephroprotective drugs (angiotensin-converting enzyme inhibitors or angiotensin receptor blockers) to prevent or slow the progressive loss of kidney functions. Early diagnosis of Fabry disease is important as enzyme replacement therapy reduces symptoms, improves clinical features and biochemical markers, and the quality of life. More importantly, early treatment could slow or stop progressive organ damage in later life.

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Section: Diagnosis Of Fabry Diseasementioning

confidence: 99%

Section: Effects Of Currently Available Therapies On Renal Symptomsmentioning

confidence: 99%

Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease

et al. 2022

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“…In inherited forms of NDI, genetic counseling should be offered for affected individuals and their families. A known gene mutation allows early diagnosis by prenatal genetic testing for subsequent pregnancies and genetic counseling for family members of cases with NDI (8,27,28). Although the majority of NDI patients have mutations in the previously discussed gene, nearly 2% do not, and the genetic cause of NDI in these patients is not known (14).…”

Section: Clinical Testing and Workupmentioning

confidence: 99%

Nephrogenic diabetes insipidus in children (Review)

et al. 2021

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Nephrogenic diabetes insipidus (NDI) is characterized by impaired urinary concentrating ability, despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). NDI can be inherited or acquired. NDI can result from genetic abnormalities, such as mutations in the vasopressin V2 receptor (AVPR2) or the aquaporin-2 (AQP2) water channel, or acquired causes, such as chronic lithium therapy. Congenital NDI is a rare condition. Mutations in AVPR2 are responsible for approximately 90% of patients with congenital NDI, and they have an X-linked pattern of inheritance. In approximately 10% of patients, congenital NDI has an autosomal recessive or dominant pattern of inheritance with mutations in the AQP2 gene. In 2% of cases, the genetic cause is unknown. The main symptoms at presentation include growth retardation, vomiting or feeding concerns, polyuria plus polydipsia, and dehydration. Without treatment, most patients fail to grow normally, and present with associated constipation, urological complication, megacystis, trabeculated bladder, hydroureter, hydronephrosis, and mental retardation. Treatment of NDI consist of sufficient water intake, low-sodium diet, diuretic thiazide, sometimes in combination with a cyclooxygenase (COX) inhibitor (indomethacin) or nonsteroidal anti-inflammatory drugs (NSAIDs), or hydrochlorothiazide in combination with amiloride. Some authors note a generally favorable long-term outcome and an apparent loss of efficacy of medical treatment during school age.

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Implications of visfatin genetic variants in the metabolic profile of the Romanian pediatric population

Vasilache

Mărginean

Boaghi

et al. 2020

Revista Romana De Medicina De Laborator

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Background: Conflictual results regarding the relationship between plasmatic level of visfatin and obesity could be explained by the influence of the gene variants involved in the synthesis or action of these hormones.Objectives: The present study examined the potential implication of single nucleotide polymorphisms (SNPs) of nicotinamide phosphoribosyltransferase (NAMPT) gene that encodes visfatin, in obesity, in a Romanian pediatric population.Method: A case-control study was conducted on a group of 213 children, divided into two: the case group - 130 overweight and obese children with BMI >1 SD, and the control group - 83 children with normal BMI. The variables analyzed were age, sex, anthropometric parameters, body composition based on bioimpedance analysis, lipid profile, visfatin and insulin plasmatic levels, rs4730153 and rs2302559 visfatin SNPs.Results: Significant associations were not found between rs4730153 and rs2302559 visfatin SNPs and obesity. Regarding lipid metabolism, there are statistically significant differences between triglyceride levels according to NAMPT rs2302559 genotypes (p=0.045), with heterozygous genotype having the highest level of triglycerides, and also between cholesterol levels according to NAMPT rs4730153 genotypes (p=0.030), with carriers of heterozygote genotype having the highest level of cholesterol. There is a statistically significant difference between the studied parameters in the investigated groups, regarding cholesterol, in carrier of wild-type genotype of NAMPT rs2302559 (p=0.040) and carrier of wild-type genotype of NAMPT rs4730153 (p=0.036). We observed no association of NAMPT rs4730153 and rs2302559 with visfatin levels in the studied groups. Visfatin level was lower in the case group and was correlated with weight (p=0.042), abdominal circumference (p=0.010), waist to height ratio (p=0.040), but not with the elements of the metabolic profile.Conclusion: NAMPT rs2302559 and rs4730153 polymorphisms do not seem to have a major impact in the development of obesity in children, however there may be an association with lipid profile, but further studies are needed..

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Genetic testing in pediatrics - a narrative essay of challenges and possibilities in Romania

Cited by 3 publications

References 23 publications

Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease

Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease

Nephrogenic diabetes insipidus in children (Review)

Implications of visfatin genetic variants in the metabolic profile of the Romanian pediatric population

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