Diversity of kidney care referral pathways in national child health systems of 48 European countries.

Background: Primary, secondary and tertiary healthcare services in Europe create complex networks covering pediatric subspecialties, sociology, economics and politics. Two surveys of the European Society for Paediatric Nephrology (ESPN) in 1998 and 2017 revealed substantial disparities of kidney care among European countries. The purpose of the third ESPN survey is to further identify national differences in the conceptualization and organization of European pediatric kidney health care pathways during and outside normal working hours. Methods: In 2020, a questionnaire was sent to one leading pediatric nephrologist from 48 of 53 European countries as defined by the World Health Organization. In order to exemplify care pathways in pediatric primary care nephrology, urinary tract infection (UTI) was chosen. Steroid sensitive nephrotic syndrome (SSNS) was chosen for pediatric rare disease nephrology and acute kidney injury (AKI) was analyzed for pediatric emergency nephrology. Results: The care pathways for European children and young people with urinary tract infections were variable and differed during standard working hours and also during night-time and weekends. During daytime, UTI care pathways included six different types of care givers. There was a shift from primary care services outside standard working hours to general outpatient polyclinic and hospital services. Children with SNSS were followed up by pediatric nephrologists in hospitals in 69% of countries. Patients presenting with community acquired AKI were admitted during regular working hours to secondary or tertiary care hospitals. During nights and weekends, an immediate shift to University Children's Hospitals was observed where treatment was started by intensive care pediatricians and pediatric nephrologists. Conclusion: Gaps and fragmentation of pediatric health services may lead to the risk of delayed or inadequate referral of European children with kidney disease to pediatric nephrologists. The diversity of patient pathways outside of normal working hours was identified as one of the major weaknesses in the service chain.

Differences in Serbian and Libyan crane operators' anthropometric measurements and cabin interior space modeling.

BACKGROUND: Previous research has shown that the collection and analysis of crane operators' anthropometric characteristics is very important for operators' comfort, health and working ability and also from the aspect of performance, productivity and safety. OBJECTIVE: The first aim of this survey is to collect up-to-date anthropometric data of crane operators in Serbia and to collect those data for the first time in Libya. The second aim of this survey is to compare the collected data. The third aim is to model the interior space necessary to accommodate operators in the cabins they operate in Serbia and Libya. METHODS: Standing height, sitting height, lower leg length, upper leg length, shoulder width, hip breadth, arm length, foot length and weight data were collected of 83 Serbian and 50 Libyan crane operators. Descriptive statistics, correlation analysis and tests for differences between variables were conducted to examine differences between Serbian and Libyan crane operators and enable further modeling. The modeling of the cabin interior was done using both univariate and multivariate operators' models from both samples. RESULTS: There are only four common correlations between variables for both samples. The only measurement without statistical differences is shoulder width. Serbian crane operators have statistically higher values of almost all measurements in comparison to Libyans. The minimal cabin interior space dimensions are 1207×1080×1884 mm for Serbian operators and 1106×1040×1790 mm for Libyan operators when using univariate approach, while multivariate approach provides more precise and comfortable accommodation within 1327×1123×1926 mm for Serbian operators and 1203×1090×1830 mm for Libyan operators. Accordingly, our survey shows that percentile models include less than the intended population proportion in the design problem with few dimensions and depends on correlations among them. CONCLUSIONS: A number of problems are solved through modeling the crane operator workspace and it has been shown that cabins with different dimensions have to be offered to Serbian and Libyan markets.

Molecular characterization of cystinuria in south-eastern European countries.

Cystinuria is an autosomal recessive disorder caused by defective transport of cystine and dibasic amino acids in the proximal renal tubules and small intestine. So far, more than 128 mutations in SLC3A1 gene, and 93 in SLC7A9 gene have been described as a cause of cystinuria. We present a molecular characterization of the cystinuria in 47 unrelated south-east European families. The molecular methodology included direct sequencing, single strand conformational polymorphism, and restriction fragment length polymorphism. A total of 93 (94.9 %) out of 98 unrelated cystinuric chromosomes have been characterized. Mutations in SLC3A1 gene account for 64.3 % and in SLC7A9 gene for 30.6 % of the cystinuric chromosomes. Ten different mutations in SLC3A1 gene were found, and two of them were novel (C242R and L573X), while in SLC7A9 gene seven mutations were found, of which three were novel (G73R, V375I and c.1048_1051delACTC). The most common mutations in this study were T216M (24.5 %), M467T (16.3 %) and R365L (11.2 %) in SLC3A1 and G105R (21.4 %) in SLC7A9 gene. A population specificity of cystinuria mutations was observed; T216M mutation was the only mutation present among Gypsies, G105R was the most common mutation among Albanians and Macedonians, and R365L among Serbs. The results of this study allowed introduction of rapid, simple and cost-effective genetic diagnosis of cystinuria that enables an early preventive care of affected patients and a prenatal diagnosis in affected families.

Effect of growth hormone replacement therapy in a boy with Dent's disease: a case report.

INTRODUCTION: Dent's disease is an X-linked recessive proximal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. To the best of our knowledge, this is only the third report on the use of growth hormone therapy in a child with poor growth associated with Dent's disease. CASE PRESENTATION: We report on a 7-year-old Montenegrin boy with proteinuria, hypercalciuria, nephrocalcinosis, rickets and short stature with unimpaired growth hormone secretion. A molecular genetic analysis showed S244L substitution on the CLCN5 gene. After two years of conventional treatment with hydrochlorothiazide, laboratory tests revealed more prominent proteinuria, mild hypophosphatemia, increased values of alkaline phosphatase and features of rickets. Phosphate salts, calcitriol, potassium citrate and growth hormone were included in the therapy. After three years of therapy, his adjusted parental stature was 1.53 standard deviations higher than at the initiation of growth hormone therapy. His global kidney functions and levels of proteinuria and calciuria remained relatively stable. In spite of the growth hormone therapy, his tubular reabsorption of phosphate deteriorated. CONCLUSION: Treatment with recombinant human growth hormone may have a positive effect on final height in poorly growing children with Dent's disease and hypophosphatemic rickets. However, it is not possible to reach definite conclusions due to the small sample within the literature and the brief duration of the therapy.

[Dent's disease].

INTRODUCTION: Dent disease is X-linked recessive proximal tubulopathy, due to mutations in the CLCN5 gene. It is characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and progressive renal failure. CASE OUTLINE: A seven-year-old boy was referred after endocrinological examination where abdominal ultrasound showed nephrocalcinosis. There were anamnestic data neither of oedema, macrohaematuria, nor polyuria or hypertension. There were also no data of chronic renal failure in the family. We determined: proteinuria (1.8 g/day), elevated urinary excretion of Beta 2 microglobulin, microscopic haematuria, hypercalciuria (8-10 mg/kg/day), nephrocalcinosis, decreased tubular reabsorption phosphate (65%). Values of growth hormone, parathormone on thyroid hormone were normal. Except hypercalciuria, which was registered in the patient's mother, all other analyses performed in family members were between reference values. Diagnosis was finalized by mutation analysis, which showed S244L substitution on CNCL5. Mutation carrier was mother with normal phenotype. CONCLUSION: Dent disease is rare X-linked nephrocalcinosis. Definitive diagnosis of this proximal tubulopathy which leads to progressive renal damage is not possible without evidence of gene mutation in renal chlorine channel.