EVC gene polymorphisms and risks of isolated hypospadias - a preliminary study.

INTRODUCTION: Hypospadias has a complex etiology with both genetic and environmental factors contributing to the condition. Urogenital abnormalities including hypospadias, are found in 22% of cases with Ellis van Creveld syndrome (EvC). Mutations in the EVC gene can cause major and minor anomalies, which form phenotypes that partially overlap with those present in EvC. The aim of this study was to evaluate the association between nucleotide variants of the EVC gene and the risk of hypospadias. MATERIAL AND METHODS: Four single nucleotide polymorphisms (SNPs) of the EVC gene (rs3774856, rs2302075, rs1383180, rs7680768) were taken under investigation in 96 patients with isolated hypospadias and 284 matched controls. Genotyping of all polymorphisms was carried out by PCR and followed by appropriate restriction enzyme digestion (PCR-RFLP). RESULTS: Individuals homozygous for the SNP rs2302075 (p.Thr449Lys) showed an elevated risk for hypospadias. Haplotypes containing the rs2302075 variant also revealed modest associations with hypospadias, which did not survive multiple testing corrections. None of the other tested EVC polymorphisms displayed significant association with the risk of hypospadias, either in dominant or recessive inheritance models. CONCLUSIONS: The results of this study suggest that polymorphic variants of the EVC gene do not substantially contribute to the risk of hypospadias based on our study population. However, further studies should help to clarify the relationship between polymorphisms of EVC and hypospadias.

[Etiology and own experience in the primary monosymptomatic nocturnal enuresis in children]. / Etiologia i doSwiadczenia wLasne w pierwotnym monosymptomatycznym moczeniu nocnym u dzieci.

UNLABELLED: Primary monosymptomatic nocturnal enuresis (PMNE) is the most frequent (85%) type of enuresis in children. It remains a diagnostic and therapeutic challenge to establish its etiology and implement a proper treatment. AIM: The aim of the study was to establish the causes of PMNE in children on the basis of own investigations and assess factors having influence over PMNE etiology, which would enable the choice of effective therapy. MATERIALS AND METHODS: The study concerned 85 children with PMNE aged from 5 to 15 years. The patients were under the care of Nephrology Outpatient Clinic at Institute of Mather and Child in years 2009-2014. The detailed medical history, physical examination as well as laboratory investigations of blood and urine, and radiological investigations of the urinary tract, were carried out. Statistical analysis was performed using R software. RESULTS: In all patients, we have successfully detected the etiology of children of PMNE. The basic, equally frequent (62.3%), PMNE etiopathogenetic factors turned to be: too small bladder capacity resulting from the detrusor hyperactivity, and night polyuria mainly caused by vasopressin deficiency or abnormal eating and hygienic habits, occurring separately or in conjunction with each other. Too small bladder capacity occurred mainly (37.6%, group C) as the only etiological factor of PMNE, and in 24.7% (group A) in a conjunction with nocturnal polyuria due to decreased excretion of vasopressin. Night polyuria was caused by the deficiency of vasopressin in most cases (37.6%) and occurred mainly (24.7%, group D) in a conjunction with small bladder capacity, and rarely alone (12.9%, group B). In 24.7% (group A) it appeared due to eating and hygienic abnormal habits. We have proved statistically significant differences in mean voiding frequency and volume (p<0.0001) between groups A-B and C-D. Mean morning urine specific gravity (p<0.0001) also differed significantly between group C and B (p<0.0001) as well as C and D (p=0.0004). CONCLUSIONS: PMNE in all patients was attributed to specific causes outside the circle of psychological disorders what reduced patient stigmatization. PMNE etiology is very complex and diverse. It still remains a challenge and requires and individual diagnostic and therapeutic approach. Voiding frequency above 8 daily with voiding volumes usually below 100 ml suggest etiology connected with small bladder capacity, while morning urine specific gravities below 1.021 g/ml can be connected with vasopressin deficiency or excessive fluid intake before the bedtime. The developed diagnostic approach along with borderline values are hints that can aid physicians in establishing PMNE causes.

[Etiology primary, monosymptomatic nocturnal enuresis in children. Own research]. / Przyczyny pierwotnego, monosymptomatycznego moczenia nocnego u dzieci. Badania wlasne.

INTRODUCTION: Primary monosymptomatic nocturnal enuresis is the most frequent (85%) type of enuresis in children. Establishing its causes enables the choice of effective therapy. AIM: To establish the causes of primary, monosymptomatic nocturnal enuresis in children on the basis of own investigations. MATERIAL AND METHODS: The study concerned 47 children (36 boys and 21 girls) with primary, monosymptomatic nocturnal enuresis aged from 5 years 5 months to 15.5 years. The patients were under the care of Nephrological Outpatient Clinic at the Institute of Mother and Child in the years 2009-2013. The detailed medical history, physical examination as well as laboratory investigations of blood and urine and radiological investigations of the urinary tract, were carried out. RESULTS: The most frequent causes of nocturnal enuresis in the studied groups was destructor over-activity (55,3%). Other causes were: nocturnal polyuria (21,3%) and destructor overactivity together with polyuria (12,8%). In a lower percentile (10,6%) the causes of nocturnal enuresis were incorrect habits concerning drinking, time and amount of fluids taken before sleep and the lack of habits to pass urine before sleep. CONCLUSIONS: 1. Primary monosymptomatic nocturnal enuresis is a significant underestimated problem. 2. Etiology of nocturnal enuresis in the developmental period has heterogenous origin and requires individual diagnostic and therapeutic approach. 3. Obtained results of investigations conclude that primary monosymtomatic nocturnal enuresis is conditioned by concrete organic and not mental causes as is quite often suggested, and in this way stigmatizing the population in which this disorder is found.