[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.

Identification of novel cystinuria mutations in pediatric patients.

OBJECTIVE: Cystinuria is a common inherited disorder of renal reabsorption of cystine and the dibasic amino acids. So far, mutations in two genes (SLC3A1 and SLC7A9) have been identified in cystinuria patients. Molecular searches for cystinuria mutations show that their distribution depends on the ethnic origin of the patients, but have not allowed the detection of 100% of variants. Pediatric patients representing a severe form of the disease appear to carry other mutations than those patients referred from urological centers. We analysed patients with an age of manifestation less than 15 years for mutations in the two cystinuria genes. PATIENTS AND METHODS: We screened 17 patients for mutations in SLC3A1 and SLC7A9, 15 of whom were younger than 16 years at first stone formation. The search for mutations used PCR-based standard techniques, and was focused on point mutations and larger deletions and duplications in both genes. RESULTS: Apart from detection of mutations in approximately 70% of patients but identification of only 53% of alleles, we detected three novel mutations as well as three new polymorphisms. CONCLUSION: The detection rate in young cystinuria patients is lower than that in older patients, and there is a different pattern of variants. There is evidence for other (probably genetic) factors being involved in the pathophysiology of cystinuria.

[Urinary trace elements excretion in patients with cystine calculosis]. / Wydalanie pierwiastków sladowych z moczem u chorych z kamica cystynowa.

UNLABELLED: Not all cystinuric patients develop urinary calculi. There is the need to identify modulating factors. In recent years the role of trace elements in the mechanism of stone formation has received a steadily increasing attention. The aim of our study was to determine urinary excretion of trace elements in patients with recurrent cystine calculosis. MATERIAL AND METHODS: 11 patients with recurrent cystine calculosis and 15 healthy volunteers participated in the study. Urinary zinc, copper, chromium, boron and arsenic concentrations were determined by use of inductively coupled plasma-mass spectrometry (ICP-MS). RESULTS: There was a statistically significant difference between the patients with cystinuria and controls in mean arsenic urinary excretion (0.625+/-0.6 microg/kg body weight/24 h vs. 1.264+/-0.635 microg/kg b.w./24 h, p=0.02). There was also a noticeable difference in urinary chromium, the mean concentration of which was higher in case of the patients with cystinuria (3.32+/-3.59 microg/kg/24 h) than in the controls (1.38+/-0.69 microg/kg/24 h). The mean urinary excretion of zinc, copper, and boron (in microg/kg b.w./24 h) were respectively 7.40+/-7.98; 1.33+/-0.48; 26.55+/-15.81 in the patients with cystinuria and 9.84+/-5.33; 1.16+/-0.84; 35.87+/-13.76 in the controls. CONCLUSION: It seems that a decreased excretion of arsenic may contribute to the development of cystine calculosis.

[Defects of the low urinary tract as a cause of recurrent urinary tract infection in girls]. / Wady dolnych dróg moczowych jako przyczyna nawracajacych zakazen ukladu moczowego u dziewczat.

462 girls aged 1 month--15 years with recurrent urinary tract infection were diagnosed in the Outpatient Clinic of Mother and Child Institute during 1985-1992 and 1999-2000 years period. The most common cause of recurrent urinary tract infection was an isolated construction of external urethral ostium--59.9% (187/312) then vesico-ureteral reflux coexisting with external urethral ostium--41.1% (125/312), next isolate vesico-ureteral reflux--22.5% (104/462). Typical radiological diagnostic was performed in all cases and calibration of urethrae was 416 girls. From 75% (312/416) cases with urethral construction only 54.7% (253/462) had typical cystographic picture of that defect. Results of our studies confirmed the importance of exact diagnosis of "lower part of urinary tract" and necessity of appropriate treatment.

[Usefulness of Uro-Vaxom in complex treatment of recurrent urinary tract infections in girls]. / Przydatnosc preparatu Uro-Vaxom w kompleksowym leczeniu nawracajacych zakazen ukladu moczowego u dziewczat.

Uro-Vaxom was used in the treatment of recurrent urinary tract infections in 35 girls. Most of them (34/35) tolerated the drug very well, no side effect were observed. We stopped administration of the Uro-Vaxom in one girl, during the first month of treatment because of vomiting. This way efficiency of Uro-Vaxom was evaluated in the treatment of recurrent urinary tract infections in 34 girls. Uro-Vaxom was found to be a valuable drug, supporting antibiotic therapy in recurrent urinary tract infections caused by E. coli.