Петлевые тубулопатии: синдром Барттера

The authors provide a review of current clinical guidelines regarding medical care provided to children with Bartter’s syndrome — impaired renal tubular function (loop of Henle) with the development of hypokalemia, hypochloremia, metabolic alkalosis and hyperreninemic hyperaldosteronism.  The specifics of disease epidemiology, etiology and pathogenesis  are described. The issues of differential diagnosis and treatment based on the principles of evidence are covered.Авторами  представлены   основные  положения   актуальных  клинических  рекомендаций  по  оказанию  медицинской помощи детям с синдромом Барттера  — нарушением функции  почечных канальцев  (петли  Генле)  с развитием гипокалиемии,  гипохлоремии,  метаболического  алкалоза  и гиперренинемического  гиперальдостеронизма. Рассматриваются  особенности  эпидемиологии,  этиологии  и патогенеза.  Освещены вопросы дифференциальной диагностики, лечения, основанного на принципах доказательности

Дистальные тубулопатии. Синдром Гительмана

The clinical recommendations on management of children with Gitelman syndrome developed by the experts of the Union of pediatricians of Russia are presented in this article. Gitelman syndrome is a dysfunction of distal renal tubules with further development of hypomagnesemia, hypocalciuria and secondary aldosteronism which determine hypokalemia and metabolic alkalosis. Features of epidemiology, etiology and pathogenesis, disease progression, differential diagnostics and evidence-based treatment are presented.Представлены разработанные экспертами Союза педиатров России клинические рекомендации по оказанию медицинской помощи детям с синдромом Гительмана — нарушением функции дистальных почечных канальцев с развитием гипомагнеземии, гипокальциурии и вторичного альдостеронизма, который обусловливает гипокали-емию и метаболический алкалоз. Отмечены особенности эпидемиологии, этиологии и патогенеза, клинического течения, дифференциальной диагностики, а также лечения, основанного на принципах доказательности

Distal Tubulopathy. Liddle Syndrome

The clinical recommendations on management of children with Liddle syndrome which is characterized by severe hypertension along with low activity levels of renin and aldosterone in blood plasma, hypokalemia and metabolic alkalosis, were developed by the experts of the Union of pediatricians of Russia. Aspects of epidemiology, etiology and pathogenesis, disease progression, differential diagnostics and evidence-based treatment are presented

Loop tubulopathies: Bartter’s syndrome

The authors provide a review of current clinical guidelines regarding medical care provided to children with Bartter’s syndrome — impaired renal tubular function (loop of Henle) with the development of hypokalemia, hypochloremia, metabolic alkalosis and hyperreninemic hyperaldosteronism.  The specifics of disease epidemiology, etiology and pathogenesis  are described. The issues of differential diagnosis and treatment based on the principles of evidence are covered

Corrigendum to “A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants.”

DOI of original article: https://doi.org/10.1016/j.kint.2023.02.022 The authors regret to report that Hee Gyung Kang, Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea, inadvertently was not included in the list of authors of the published article. The collaborator was removed from the Acknowledgments. This has been corrected in the article online. The authors would like to apologize for any inconvenience caused.</p

Management of bone disease in cystinosis: Statement from an international conference

Cystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes. Since the accumulation of intracellular cystine affects all organs and tissues, the management of cystinosis requires a specialized multidisciplinary team consisting of pediatricians, nephrologists, nutritionists, ophthalmologists, endocrinologists, neurologists' geneticists, and orthopedic surgeons. Treatment with cysteamine can delay or prevent most clinical manifestations of cystinosis, except the renal Fanconi syndrome. Virtually all individuals with classical, nephropathic cystinosis suffer from cystinosis metabolic bone disease (CMBD), related to the renal Fanconi syndrome in infancy and progressive chronic kidney disease (CKD) later in life. Manifestations of CMBD include hypophosphatemic rickets in infancy, and renal osteodystrophy associated with CKD resulting in bone deformities, osteomalacia, osteoporosis, fractures, and short stature. Assessment of CMBD involves monitoring growth, leg deformities, blood levels of phosphate, electrolytes, bicarbonate, calcium, and alkaline phosphatase, periodically obtaining bone radiographs, determining levels of critical hormones and vitamins, such as thyroid hormone, parathyroid hormone, 25(OH) vitamin D, and testosterone in males, and surveillance for nonrenal complications of cystinosis such as myopathy. Treatment includes replacement of urinary losses, cystine depletion with oral cysteamine, vitamin D, hormone replacement, physical therapy, and corrective orthopedic surgery. The recommendations in this article came from an expert meeting on CMBD that took place in Salzburg, Austria, in December 2016.status: publishe