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BACKGROUND: Proteinuria, in addition to haematuria, is the most important laboratory parameter in patients with nephro-urological diseases. Low molecular weight proteinuria (LMWP) is of particular importance because some diseases genetic and tubulointerstitial are diagnosed based on its presence.AIM: The purpose of this study is to describe the clinical features, the course and outcome of pediatric patients with a renal disease associated with LMWP.MATERIAL AND METHODS: This retrospective observational study included 250 pediatric patients with various kidney diseases in which the type of proteinuria was defined by 4-20% gradient gel sodium dodecyl sulphate polyacrylamide gel (SDS-PAG) electrophoresis.RESULTS: Isolated LMWP was detected in 12% of patients, while mixed glomerulotubular proteinuria was detected in 18% of patients. It was detected in all patients with the Dent-1/2 disease, Lowe's syndrome and secondary Fanconi syndrome. Transient LMWP was also detected in a series of 12 patients with distal renal tubular acidosis. In patients with nephrotic syndrome, it was associated with corticoresistence and unfavourable clinical course.CONCLUSION: This study contributes to the understanding of the clinical spectrum of various kidney diseases associated with LMWP, their natural course, and the effect of therapy.

BACKGROUND: Small for gestational age children (SGA) is born on term with BW and or BL of -2.0 standard deviation score (SDS). SGA children have an increased risk of being short, developing DM, and cardiovascular and cerebrovascular disease. Often defects of IGF1R are the cause of SGA. Most frequently affected part of the IGF1R gene is the exon 2.AIM: To investigate whether the exon 2 of the IGF1R gene is affected in the SGA children.PATIENTS AND METHODS: A cohort of 100 SGA children born in term was evaluated for alterations in IG1R gene. Their anthropometric parameters, IGF1 serum concentrations and IGF1 SDS values were analysed. The molecular analysis of IGF1R gene was performed by PCR restriction-site analysis and followed by direct sequencing of conspicuous fragments.RESULTS: Within our cohort, 64 SGA children were with short stature (height SDS -3.25 ± 0.90 SDS), and 36 were with normal height for their age and sex, (H SDS was 0.20 ± 1.1 SDS). None of these children had microcephaly (occipitofrontal circumference -0.70 ± 1.01 SDS vs 0.06 ± 0.56 SDS in SGA children with normal height) or dysmorphic features. The IGF1 serum concentrations and IGF1 SDS values of all children were within normal range. Only one child had lower normal serum IGF1 concentration. No alterations in exon 2 of IGF1R gene were detected.CONCLUSIONS: The genetic analysis of the exon 2 of the IGF1R gene did not detect any gene defects in the analysed patients. The putative genetic defect in those children affects other parts of the IGF1R gene or another gene (s), or yet unidentified factors.

Wildervanck syndrome (WS) combines features of Klippel-Feil syndrome (KFS), sixth nerve palsy, and deafness. This is a case of a 23 year old woman, diagnosed with KFS (a triad of short neck, low posterior hairline and restricted neck movements) at the age of 20 days. The manifestations of the WS in this patient are severe: she has torticollis, and an extremely severe scoliosis. In addition, she is short (-3 SD; parental target height + 0.8SD) and has mixed sensorineural and conductive deafness. She also has ptosis, strabismus and a high myopia. Radiologically, there are multiple coalitions of cervical vertebrae. Intelligence is unaffected (IQ 95), but deafness, strabismus and high myopia forced her early out of school. Karyotype is 46, XX. In brief, this is a patient with severe WS and additional anomalies. Short and/or reduced parental target height is a part of WS.

The genetic background of idiopathic central precocious puberty (ICPP) is not well understood, and is thought to arise from the effect of multiple genes. Familial ICPP have been reported suggesting the existence of monogenic causes of ICPP. The neurokinin B (NKB) system has recently been implicated in the regulation of the human reproductive axis. In humans, NKB and its receptor are encoded by the TAC3 and TACR3 genes, respectively. Mutations in these genes have been suggested to be causative for ICPP.ICPP was defined by pubertal onset before 8 yrs of age in girls, and a pubertal LH response to GnRH testing. Twenty eight girls with ICPP were included in the study (age at diagnosis was 5.72±2.59; bone age, 6.12±2.81, height at the start of treatment, 0.90±1.48 SD). LHRH test was performed and was pubertal in all subjects (LH 20.35±32.37 mIU/ml; FSH 23.32±15.72 mIU/ml). The coding regions of TAC and TACR3 were sequenced.No rare variants were detected in TAC and TACR3 in the 28 subjects with ICPP.We confirmed that mutations in TAC and TACR3 are not a common cause for ICPP.

AIM The genetic background of idiopathic central precocious puberty (ICPP) is not well understood. The genetic activation of pubertal onset is thought to arise from the effect of multiple genes. Familial ICPP has been reported suggesting the existence of monogenic causes of ICPP. Kisspeptin and its receptor are found to be involved in gonadotropin-releasing hormone (GnRH) secretion and puberty onset. Mutations in their genes, KISS1 and KISSR, have been suggested to be causative for ICPP. METHODS ICPP was defined by pubertal onset before 8 years of age in girls, and a pubertal luteinizing hormone (LH) response to GnRH testing. Twenty-eight girls with ICPP were included in the study [age at diagnosis was 5.72±2.59, with a mean bone age advancement of 1.4 years (-0.1 to 2.8). Height at onset of therapy in SD score was 0.90±1.48 for age]. Luteinizing hormone-releasing hormone test was performed in all subjects, and all of them had a pubertal response (LH 20.35±32.37 mIU/mL; FSH 23.32±15.72 mIU/mL). The coding regions of KISS1 and KISS1R were sequenced. RESULTS No rare variants were detected in KISS1 or KISS1R in the 28 subjects with ICPP. CONCLUSIONS We confirmed that mutations in KISS1 and KISS1R are not a common cause for ICPP.

We introduced minimal necessary criteria and methods for noninvasive laboratory diagnosis and follow-up of functional proteinuria in youths: stress tolerance test, determination of total urinary proteins (TP) and their separation and identification with gradient SDS-PAGE. Renal functional adaptability in conditions of complete rest, in routine daily activity and after several hours of active physical effort has been evaluated by the tolerance test. Excretory urinary proteins, as the most appropriate markers, were analyzed with noninvasive methods. Excretory TP demonstrated the quantity and dynamics of the proteins excreted during the tolerance test. Separation with gradient (4-22.5%) SDS-PAGE provided differentiation of functional proteinuria from the other orthostatisms, through the protein fractions present and the constant finding of apolipoprotein AI. The investigation comprised 19 youths with orthostatism and 20 healthy subjects without orthostatism, all between the age of 10 and 18 years. The subjects without orthostatism excreted proteins in normal limits during the stress tolerance test. SDS-PAGE of the urinary samples, obtained during the tolerance test, in five subjects significantly differed from that in the other 14 subjects. According to the protein fractions present as well as from the dynamics of the protein excretion, orthostatism in these five subjects probably originated from organ structural lesions. In the other 14 subjects functional proteinuria was present, but there were differences among them in the dynamics of the appearance and disappearance of the orthostatism, which has been used for arbitrary division of the orthostatic and the so-called march-proteinuria.

A case of acute poststreptococcal glomerulonephritis following circumcision is presented. An 11-year-old boy was subjected to ritual circumcision, which was complicated by the infection of the wound and development of oliguria, edema, hematuria and hypertensive encephalopathy 2 weeks later. The diagnosis of poststreptococcal glomerulonephritis was established upon the isolation of Streptococcus pyogenes, increased antistreptolysin O (ASTO) and antiDNAse B titers and hypocomplementemia. The clinical course was uneventful with resolution of the nephritic signs, normalization of the complement and clearance of the urinary abnormalities. To the best of our knowledge this is the first case of poststreptococcal glomerulonephritis following infection of the circumcision wound.