Treatment and long-term outcome in primary nephrogenic diabetes insipidus

Background: Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome. Methods: Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form. Results: Data were collected on 315 patients (22 countries, male 84%, adults 35%). Mutation testing had been performed in 270 (86%); pathogenic variants were identified in 258 (96%). The median (range) age at diagnosis was 0.6 (0.0–60) years and at last follow-up 14.0 (0.1–70) years. In adults, height was normal with a mean (standard deviation) score of −0.39 (±1.0), yet there was increased prevalence of obesity (body mass index >30 kg/m2; 41% versus 16% European average; P < 0.001). There was also increased prevalence of chronic kidney disease (CKD) Stage ≥2 in children (32%) and adults (48%). Evidence of flow uropathy was present in 38%. A higher proportion of children than adults (85% versus 54%; P < 0.001) received medications to reduce urine output. Patients ≥25 years were less likely to have a university degree than the European average (21% versus 35%; P = 0.003) but full-time employment was similar. Mental health problems, predominantly attention-deficit hyperactivity disorder (16%), were reported in 36% of patients. Conclusion: This large NDI cohort shows an overall favourable outcome with normal adult height and only mild to moderate CKD in most. Yet, while full-time employment was similar to the European average, educational achievement was lower, and more than half had urological and/or mental health problems

The Development of Mining Enterprises in the Context of Global Challenges Развитие горнодобывающих предприятий в условиях глобальных вызовов

The article denotes the problem of choosing a model for sustainable development of the mining enterprise, which enables prediction of the trajectory of its development in the short and long term, and make a choice of optimal solutions. The existing ground works of domestic and foreign scholars in the field were analyzed. The necessity of focusing on the mathematical modeling of the triad of social, ecological and economic processes of sustainable development of mining enterprises was grounded. The necessity of clustering methodology and application of cluster analysis was proved. It was founded that three areas of the mining business: economic, social and environmental sphere can be represented in two-dimensional space as a set of objects with only two parameters of cash flows: income and expenses. It was proposed to describe these spheres as circles. It was determined the parameters of these circles – the coordinates of the centers of economic cluster, social cluster and the environment cluster. The prospects of further studies to determine the radii of the clusters of the triad of social, ecological and economic processes of effective development of mining enterprises were determined.В статье обозначена проблема выбора модели устойчивого развития горнодобывающего предприятия, что дает возможность прогнозирования траектории его развития в краткосрочной и долгосрочной перспективе и выбора оптимальных решений. Проанализирован существующий задел отечественных и зарубежных ученых в данной области. Обоснована необходимость сосредоточения на математическом моделировании триады социально-эколого-экономических процессов обеспечения устойчивого развития горнодобывающих предприятий. Доказана необходимость осуществления кластеризации и применения методологии кластерного анализа. Установлено, что три сферы деятельности горнодобывающего предприятия: экономическая, социальная и сфера окружающей среды могут быть представлены в двумерном пространстве как набор объектов, имеющих только два параметра денежных потоков: доходы и расходы. Предложено описать эти сферы окружностя��и. Найдены параметры этих окружностей – координаты центров экономического кластера, социального кластера и кластера окружающей среды. Определены перспективы дальнейших исследований по определению радиусов кластеров триады социально-эколого-экономических процессов эффективного развития горнодобывающих предприятий

Improving the Management of Innovative Development of Industrial Production According to Industry Specifics

The problem of improvement of management efficiency of innovative development of industrial enterprises in modern economic conditions is indicated. The dynamics of innovative processes in Ukraine together with volumes of innovative activity of domestic enterprises are analyzed. The basic principles of formation and efficient functioning of the organizational-economic mechanism of innovative development of industrial production are substantiated. The branch specificity in management of innovative development of coal enterprises is identified. Directions of improvement of the organizational-economic mechanism of management of innovative development of enterprises of coal industry are defined. The basic principles of introduction of the mechanism for stimulation of innovative development of enterprises of coal industry are suggested

The European dRTA Registry: an initial data analysis

BACKGROUND AND AIMS: Distal renal tubular acidosis (dRTA) is a rare disorder characterised by an inability of the distal tubule to secrete acid, leading to metabolic acidosis. Clinical consequences typically include hypokalaemia, hypercalciuria with nephrocalcinosis and/or urolithiasis, as well as bone disease. Treatment with adequate alkali supplementation corrects the acidosis and hypercalciuria, but there are few data on long-term outcome. In 2018, a registry for dRTA was established by the European Society for Paediatric Nephrology, hosted by the European Rare Kidney Disease Reference Network. Here, we present an initial analysis of data in the registry. METHOD: Analysis of data entered into the registry by the cut-off data of 18/11/2020. RESULTS: A total of 135 patients had been entered, of which 106 had additional data from an annual follow-up visit. Median age at last visit was 10 years (range 0-54), including 16 adults (>17y). Genetic testing had been performed in 91 subjects and causative variants were reported in 74 (81%). Pertinent clinical details according to genetic group are listed in table 1. Treatment was provided with at least 15 different preparations, containing citrate or bicarbonate, given in 1-10 (median 3) daily doses. Adequate treatment at last follow-up, as judged by a plasma bicarbonate level >21 mmol/l and a urine calcium-creatinine ratio in the age-specific normal range was present in 46% of subjects. There was a trend for higher eGFR and height SDS in subjects with adequate treatment compared to those without, but this was not statistically significant. CONCLUSION: Currently available data demonstrate the difficulties in treating dRTA, with less than half of subjects achieving adequate control of their acidosis. By collecting long-term data, the registry will provide important information on the prognosis and complications of dRTA and to what degree these can be prevented with treatment. Enrollment of further, especially adult patients will contribute to our understanding of this rare disorder

Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.

BACKGROUND: Small cohort studies have reported high parathyroid hormone (PTH) levels in patients with Bartter syndrome and lower serum phosphate levels have anecdotally been reported in patients with Gitelman syndrome. In this cross-sectional study, we assessed PTH and phosphate homeostasis in a large cohort of patients with salt-losing tubulopathies. METHODS: Clinical and laboratory data of 589 patients with Bartter and Gitelman syndrome were provided by members of the European Rare Kidney Diseases Reference Network (ERKNet) and the European Society for Paediatric Nephrology (ESPN). RESULTS: A total of 285 patients with Bartter syndrome and 304 patients with Gitelman syndrome were included for analysis. Patients with Bartter syndrome type I and II had the highest median PTH level (7.5 pmol/L) and 56% had hyperparathyroidism (PTH >7.0 pmol/L). Serum calcium was slightly lower in Bartter syndrome type I and II patients with hyperparathyroidism (2.42 versus 2.49 mmol/L; P = .038) compared to those with normal PTH levels and correlated inversely with PTH (rs -0.253; P = .009). Serum phosphate and urinary phosphate excretion did not correlate with PTH. Overall, 22% of patients had low serum phosphate levels (phosphate-standard deviation score < -2), with the highest prevalence in patients with Bartter syndrome type III (32%). Serum phosphate correlated with tubular maximum reabsorption of phosphate/glomerular filtration rate (TmP/GFR) (rs 0.699; P < .001), suggesting renal phosphate wasting. CONCLUSIONS: Hyperparathyroidism is frequent in patients with Bartter syndrome type I and II. Low serum phosphate is observed in a significant number of patients with Bartter and Gitelman syndrome and appears associated with renal phosphate wasting.status: publishe

Treatment and long-term outcome in primary nephrogenic diabetes insipidus

Background:Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome.Methods:Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form.Results:Data were collected on 315 patients (22 countries, male 84%, adults 35%). Mutation testing had been performed in 270 (86%); pathogenic variants were identified in 258 (96%). The median (range) age at diagnosis was 0.6 (0.0–60) years and at last follow-up 14.0 (0.1–70) years. In adults, height was normal with a mean (standard deviation) score of −0.39 (±1.0), yet there was increased prevalence of obesity (body mass index &gt;30 kg/m2; 41% versus 16% European average; P &lt; 0.001). There was also increased prevalence of chronic kidney disease (CKD) Stage ≥2 in children (32%) and adults (48%). Evidence of flow uropathy was present in 38%. A higher proportion of children than adults (85% versus 54%; P &lt; 0.001) received medications to reduce urine output. Patients ≥25 years were less likely to have a university degree than the European average (21% versus 35%; P = 0.003) but full-time employment was similar. Mental health problems, predominantly attention-deficit hyperactivity disorder (16%), were reported in 36% of patients.Conclusion:This large NDI cohort shows an overall favourable outcome with normal adult height and only mild to moderate CKD in most. Yet, while full-time employment was similar to the European average, educational achievement was lower, and more than half had urological and/or mental health problems

Treatment and long-term outcome in primary nephrogenic diabetes insipidus

\ua9 2023 Oxford University Press. All rights reserved.Background. Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome. Methods. Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form. Results. Data were collected on 315 patients (22 countries, male 84%, adults 35%). Mutation testing had been performed in 270 (86%); pathogenic variants were identified in 258 (96%). The median (range) age at diagnosis was 0.6 (0.0–60) years and at last follow-up 14.0 (0.1–70) years. In adults, height was normal with a mean (standard deviation) score of -0.39 (61.0), yet there was increased prevalence of obesity (body mass index &gt;30 kg/m2; 41% versus 16% European average; P &lt; 0.001). There was also increased prevalence of chronic kidney disease (CKD) Stage =2 in children (32%) and adults (48%). Evidence of flow uropathy was present in 38%. A higher proportion of children than adults (85% versus 54%; P &lt; 0.001) received medications to reduce urine output. Patients =25 years were less likely to have a university degree than the European average (21% versus 35%; P = 0.003) but full-time employment was similar. Mental health problems, predominantly attention-deficit hyperactivity disorder (16%), were reported in 36% of patients. Conclusion. This large NDI cohort shows an overall favourable outcome with normal adult height and only mild to moderate CKD in most. Yet, while full-time employment was similar to the European average, educational achievement was lower, and more than half had urological and/or mental health problems

Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease

Objective: To identify prenatal, perinatal, and postnatal risk factors for dialysis within the first year of life in children with autosomal recessive polycystic kidney disease (ARPKD) as a basis for parental counseling after prenatal and perinatal diagnosis. Study design: A dataset comprising 385 patients from the ARegPKD international registry study was analyzed for potential risk markers for dialysis during the first year of life. Results: Thirty-six out of 385 children (9.4) commenced dialysis in the first year of life. According to multivariable Cox regression analysis, the presence of oligohydramnios or anhydramnios, prenatal kidney enlargement, a low Apgar score, and the need for postnatal breathing support were independently associated with an increased hazard ratio for requiring dialysis within the first year of life. The increased risk associated with Apgar score and perinatal assisted breathing was time-dependent and vanished after 5 and 8 months of life, respectively. The predicted probabilities for early dialysis varied from 1.5 (95 CI, 0.5-4.1) for patients with ARPKD with no prenatal sonographic abnormalities to 32.3 (95 CI, 22.2-44.5) in cases of documented oligohydramnios or anhydramnios, renal cysts, and enlarged kidneys. Conclusions: This study, which identified risk factors associated with onset of dialysis in ARPKD in the first year of life, may be helpful in prenatal parental counseling in cases of suspected ARPKD. © 2018 Elsevier Inc