nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical Universitynefr-25Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИ. КЛИНИЧЕСКИЕ ИССЛЕДОВАНИЯORIGINAL ARTICLES. CLINICAL INVESTIGATIONSПоказатели неорганического фосфата, паратиреоид-ного гормона крови и почечной канальцевой реабсорбции фосфатов у детей с наследственным гипофосфатемическим рахитомIndices of inorganic phosphate, parathyreoid hormone of blood and renal tubular reabsorption of phosphate in children with hereditary hypophosphatemic ricketsЛевиашвилиЖ. Г.LeviashviliZh. G.jannalevi@gmail.comСавенковаН. Д.SavenkovaN. D.noemail@neicon.ruМусаеваА. В.MusayevaA. V.noemail@neicon.ruБеловД. Ю.BelovD. Yu.noemail@neicon.ruСанкт-Петербургский государственный университетRussian Federation2014010520141834556Copyright © Левиашвили Ж.Г., Савенкова Н.Д., Мусаева А.В., Белов Д.Ю., 20142014Левиашвили Ж.Г., Савенкова Н.Д., Мусаева А.В., Белов Д.Ю.Leviashvili Z.G., Savenkova N.D., Musayeva A.V., Belov D.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephrolog.ru/jour/article/view/25

ЦЕЛЬ ИССЛЕДОВАНИЯ. Оценить рост, показатели неорганического фосфата, ПТГ, 25(ОН)2D3 в крови, почечной канальцевой реабсорбции, СКФ у детей с наследственным ГР. ПАЦИЕНТЫ И МЕТОДЫ: Обследовано 80 пациентов из 79 семей с наследственным ГР. Определены 38 Х-сцепленный и AD ГР, из них в 4 гипофосфатемическая костная болезнь,42 AR ГР, из них в 4 ГР с гиперкальциурией. Использованы расчетные формулы ФЭФ, КРФ, МКРФ, U P/ Cr, U Ca/Cr индексы. РЕЗУЛЬТАТЫ. У 80 пациентов с ГР центильные величины длины тела (см) у 33 мальчиков и у 47 девочек от 1 до 17 лет находились в «низком» уровне - зоне №2 (10% центиля). Выявлены отставание в росте, более выраженное у мальчиков, с аутосомно-рецессивным ГР. Неорганический фосфат крови у 80 пациентов с ГР (1,00±0,09 ммоль/л) достоверно ниже нормы, высокая активность щелочной фосфатазы 1149,63±76,07 ед/л, фосфатурия 28,91±2,65 мг/кг/сут. Показатели КРФ (67,46±3,40%), МКРФ (0,69±0,09 ммоль/л) снижены. ФЭФ повышена (31,54±5,64%), выявлена корреляционная зависимость между уровнем фосфата крови и ФЭФ. Показатели U P/Cr у детей с ГР снижены 1,38 ± 0,28 (n 0,76 ± 0,31). U Ca/Cr выше нормы у детей с AR с гиперкальциурией. В крови ПТГ и уровень 25(ОН)2D из 80 пациентов с ГР нормальные у 76 (соответственно 49,7±4,4, 30,3±8,3 и 44,5 пг/ мл), р>0,05,у детей с ГР с гиперкальциурией снижен (28,5±0,8 пг/мл и 44,5 пг/мл соответственно). ЗАКЛЮЧЕНИЕ. Расчетные формулы оценки ФЭФ, КРФ, МКРФ, U P/Cr индекса, являются информативными показателями дефекта транспорта фосфатов в проксимальных канальцах почек, так как учитывают их концентрацию в плазме, уровень креатинина в крови и моче.

THE AIM OF STUDY: To evaluate the growth, indices of inorganic phosphate, parathyreoid hormone, 25(OH)2D3 in blood, renal tubular reabsorption, glomerular filtration rate (GFR) in children suffering from hereditary hypophosphatemic rickets (HR). PATIENTS AND METHODS: Examined are 80 patients from 79 families with hereditary HR. Detected are 38 Х-linked and AD HR cases, of which 4 cases having hypophosphatemic bone disease, 42 AR HR cases, of which 4 cases having HR with hypercalciuria. Used are the formulas for calculation of indices of FEP, TRP, TmP, U P/Cr, U Ca/Cr. RESULTS: Of the 80 patients with HR, the centile values of body length (cm) in 33 boys and in 47 girls aged 1 to 17 years were in the “low” level - zone No. 2 (10% of the centile). A considerable growth retardation is detected, more pronounced in boys, with AR HR. The inorganic phosphate of blood in the 80 patients with HR (1.00±0.09 mmol/l) is reliably less than normal, high activity of alkaline phosphotase 1149.63±76.07 U/l, phosphaturia 28.91±2.65 mg/kg/day. The indices of tubular reabsorption of phosphate (TRP) (67.46±3.40 %), maximum tubular reabsorption of phosphate (TmP) (0.69±0.09 mmol/l) are less than normal. The fractional phosphate excretion (FPE) is higher than normal (31.54±5.64 %), a correlation dependence between the level of phosphate of blood and the FEP is discovered. The indices of U P/Cr in children with HR were 1.38 ± 0.28 (n 0.76 ± 0.31). The index of U Ca/Cr is less than normal in 3 groups, higher than normal in the group of children with AR with hypercalciuria. Of the 80 patients with HR, the level of PTH and 25(OH)2D in blood was no different from the normal indices in 76 (49.7±4.4 pg/ml, 30.3±8.3 and 44.5 pg/ml), р>0.05, in those with HR with hypercalciuria is less than normal (28.5±0.8 pg/ml and 44.5 pg/ml). CONCLUSION: The evaluation of indices of FEP, TRP, TmP, U P/Cr using the calculation formulas is very informative of defect of transport of phosphates in proximal renal tubules, as it takes into account their concentration in plasma, and the level of creatinine in blood and in urine.

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The authors declare that there are no conflicts of interest present.