perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2018-63-3-19-25perinatology-668Research ArticleОБЗОР ЛИТЕРАТУРЫREVIEWSСРАВНИТЕЛЬНАЯ ХАРАКТЕРИСТИКА РАХИТОПОДОБНЫХ ЗАБОЛЕВАНИЙCOMPARATIVE CHARACTERISTICS OF RICKETS-LIKE DISEASEShttps://orcid.org/0000-0002-1483-8328ПрошляковаТ. Ю.ProshlyakovaT. Yu.

Прошлякова Татьяна Юрьевна – кандидат биологических наук, старший научный сотрудник лаборатории наследственных болезней обмена веществ Медико-генетического научного центра.

Москва

Moscow

https://orcid.org/0000-0003-4527-4518КороткаяТ. С.KorotkayaT. S.

Короткая Татьяна Сергеевна – научный сотрудник лаборатории наследственных болезней обмена веществ Медико-генетического научного центра.

115478 Москва, ул. Москворечье, д.1

Moscow

https://orcid.org/0000-0002-3275-1808КузнецоваС. Ю.KuznetsovaS. Yu.

Кузнецова Светлана Юрьевна – врач педиатрического отделения врожденных и наследственных заболеваний НИКИ педиатрии имени академика Ю.Е. Вельтищева.

125412 Москва, ул. Талдомская, д. 2

Moscow

ФГБНУ Медико-генетический научный центрРоссияResearch centre for medical geneticsRussian FederationОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГБОУ ВО «РНИМУ им. Н.И. Пирогова» Минздрава РоссииРоссияYu.E. Veltishchev Research Clinical Institute of Pediatrics, Pirogov Russian National Research Medical UniversityRussian Federation2018290620186331925Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20182018Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/668

В представленной обзорной статье обобщены клинические особенности, биохимические и молекулярно-генетические характеристики, лабораторные и инструментальные показатели, а также подходы к лечению рахитоподобных заболеваний, таких  как витамин D-зависимый рахит, почечный канальцевый ацидоз, синдром де Тони–Дебре–Фанкони. Дифференциальная диагностика этой группы заболеваний сопряжена с рядом трудностей, основными из которых являются  низкая частота встречаемости отдельных форм и большое сходство с другими болезнями обмена веществ. Установление точного диагноза важно не только для правильног и своевременного лечения, но и для медико-генетического консультирования семьи и расчета генетического риска, поскольку разные формы заболеваний имеют разный тип наследования. Описанные в статье данные могут быть применены врачами на всех этапах обследования пациентов.

The review summarizes clinical features, biochemical and molecular-genetic characteristics, laboratory and instrumental indicators,  as well as approaches to the treatment of ricket-like diseases: vitamin D-dependent rickets, renal tubular acidosis, de Toni-DebreFanconi syndrome. Differential diagnosis of this disease group is associated with a number of difficulties, the main of which are a fairly low frequency  of certain forms occurrence and a strong resemblance with other diseases, that disrupt the metabolism, associated with the influence  of many hereditary and external factors. Establishing an accurate diagnosis is important not only for correct and timely treatment, but also for medical-genetic family counseling and genetic risk calculation, since different disease forms have different inheritance types. A competent and timely diagnosis  should be based on knowledge of the distinctive features of very similar diseases. The data described in this article can be used by  doctors at all stages of the patient survey.

детирахитоподобные заболеваниятубулопатиивитамин D-зависимый рахитпочечный канальцевый ацидозсиндром де Тони–Дебре–Фанкониrickets-like diseasesVitamin D-dependent ricketsrenotubular syndromeReferencesНовиков П.В. Рахит и наследственные рахитоподобные заболевания у детей. Москва: Триада-Х 2006; 336.Novikov P.V. Rickets and hereditary rachitis-like diseases in children. Moscow: Triada-X 2006; 336. (in Russ)Лукьянова Е.М., Антипкин Ю.Г., Омельченко Л.И. Рахит и рахитоподобные заболевания у детей. Doctor 2002; 3: 9–15.Luk’yanova E.M., Аntipkin Yu.G., Omel’chenko L.I.Rickets and rickets-like diseases in children. Doctor 2002; 3: 9–15. (in Russ)Кузнецова С.Ю., Новиков П.В., Прошлякова Т.Ю., Захарова Е.Ю. Гипофосфатемический рахит у детей. Рос вестн перинатол и педиатр 2013; 58 (4): 14–19.Kuznetsova S.Yu., Novikov P.V., Proshlyakova T.Yu., Zakharova E.Yu. Hypophosphatemic rickets in children. Ros vestn perinatol i pediatr 2013; 58 (4): 14–19. (in Russ)Новиков П.В. Основные направления профилактики врожденных и наследственных болезней у детей. Рос вестн перинатол и педиатр 2004; 1: 5.Novikov P.V. The main directions of prevention of congenital and hereditary diseases in children. Ros vestn perinatol i pediatr 2004; 1: 5 (in Russ)Fraser D., Salter R.B. The diagnosis and management of the various types of rickets. Pediatric Clinics of North America 1958; 5: 417–441.Fraser D., Salter R.B. The diagnosis and management of the various types of rickets. Pediatric Clinics of North America 1958; 5: 417–441.Bland R., Walker E.A., Hughes S.V., Stewart P.M., Hewison M. Constitutive expression of 25-hydroxyvitamin D3-1a-hydroxylase in a transformed human proximal tubule cell line: Evidence for direct regulation of vitamin D metabolism by calcium. Endocrinology 1999; 140: 2027–2034.Bland R., Walker E.A., Hughes S.V., Stewart P.M., Hewison M. Constitutive expression of 25-hydroxyvitamin D3-1a-hydroxylase in a transformed human proximal tubule cell line: Evidence for direct regulation of vitamin D metabolism by calcium. Endocrinology 1999; 140: 2027–2034.The Human Gene Mutation Database. Version HGMD Professional 2017.4. https://portal.biobase-international.comThe Human Gene Mutation Database. Version HGMD Professional 2017.4. https://portal.biobase-international.comШварц Г.Я. Витамин D, D-гормон и альфакальцидол: медицинские, молекулярно-биологические и фармакологические аспекты. Травма 2009; 10 (4): 63–69.Shvarts G.Ya. Vitamin D, D-hormone and Alfacalcidol: medical, molecular biological and pharmacological aspects. Travma 2009; 10 (4): 63–69. (in Russ)DeLuca H.F. Overview of general physiologic features and functions of vitamin D. Amer J Clin Nutr 2004; 80 (suppl): 1689–1696. DOI:10.1093/ajcn/80.6.1689SDeLuca H.F. Overview of general physiologic features and functions of vitamin D. Amer J Clin Nutr 2004; 80 (suppl): 1689–1696. DOI:10.1093/ajcn/80.6.1689SРязанова Е.А. Рахит и рахитоподобные заболевания: клинико-рентгенологические, биохимические проявления, лечение. Вестн Рос науч центра рентгенорадиол Минздрава России (Москва) 2010; 1 (10): 10–15.Ryazanova E.А. Rickets and rachitis-like diseases: clinical and radiological, biochemical manifestations, treatment. Vestn Ros nauch tsentra rentgenoradiol Minzdrava Rossii (Moscow) 2010; 1 (10): 10–15. (in Russ)Erdem D., Minjing Z., Roua A.A. Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A. Clin Endocrinol 2012; 77 (3): 363–369. DOI: 10.1111/j.13652265.2012.04394.xErdem D., Minjing Z., Roua A.A. Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A. Clin Endocrinol 2012; 77 (3): 363–369. DOI: 10.1111/j.13652265.2012.04394.xCasella S.J., Reiner B.J., Chen T.C., Holick M.F., Harrison, H.E. A possible genetic defect in 25-hydroxylation as a cause of rickets. J Pediatrics 1994; 124: 929–932.Casella S.J., Reiner B.J., Chen T.C., Holick M.F., Harrison, H.E. A possible genetic defect in 25-hydroxylation as a cause of rickets. J Pediatrics 1994; 124: 929–932.Zhu J., DeLuca H. F. Vitamin D 25-hydroxylase – Four decades of searching, are we there yet? Archives of Biochemistry and Biophysics 2012; 523 (1): 30–36. DOI: 10.1016/j.abb.2012.01.013Zhu J., DeLuca H. F. Vitamin D 25-hydroxylase – Four decades of searching, are we there yet? Archives of Biochemistry and Biophysics 2012; 523 (1): 30–36. DOI: 10.1016/j.abb.2012.01.013Haussler M.R., Whitfield G.K., Haussler C.A., Hsieh J.C., Thompson P.D., Selznick S.H., Dominguez C.E., Jurutka P.W. The nuclear vitamin D receptor: Biological and molecular regulatory properties revealed. J Bone Miner Res 1998; 13 (3): 325–349.Haussler M.R., Whitfield G.K., Haussler C.A., Hsieh J.C., Thompson P.D., Selznick S.H., Dominguez C.E., Jurutka P.W. The nuclear vitamin D receptor: Biological and molecular regulatory properties revealed. J Bone Miner Res 1998; 13 (3): 325–349.Carpenter T.O., Shaw N.J., Portale A.A., Ward L.M., Abrams S.A., Pettifor J.M. Rickets. Nature Reviews Disease Primers 2017; 3: 17101. DOI:10.1038/nrdp.2017.101Carpenter T.O., Shaw N.J., Portale A.A., Ward L.M., Abrams S.A., Pettifor J.M. Rickets. Nature Reviews Disease Primers 2017; 3: 17101. DOI:10.1038/nrdp.2017.101Labuda M., Fujiwara T.M., Ross M.V. Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13-14. J Bone Miner Res 1992; 7: 1447–1453.Labuda M., Fujiwara T.M., Ross M.V. Two hereditary defects related to vitamin D metabolism map to the same region of human chromosome 12q13-14. J Bone Miner Res 1992; 7: 1447–1453.Iida K., Shinki T., Yamaguchi A., DeLuca H.F., Kurokawa K., Suda T. A possible role of vitamin D receptors in regulating vitamin D activation in the kidney. Proc Nat Acad Sci (USA) 1995; 92: 6112–6116.Iida K., Shinki T., Yamaguchi A., DeLuca H.F., Kurokawa K., Suda T. A possible role of vitamin D receptors in regulating vitamin D activation in the kidney. Proc Nat Acad Sci (USA) 1995; 92: 6112–6116.Tiosano D., Weisman Y., Hochberg Z. The role of the vitamin D receptor in regulating vitamin D metabolism: A study of vitamin D-dependent rickets, type II. J Clin Endocrinol Metabol 2001; 86: 1908–1912.Tiosano D., Weisman Y., Hochberg Z. The role of the vitamin D receptor in regulating vitamin D metabolism: A study of vitamin D-dependent rickets, type II. J Clin Endocrinol Metabol 2001; 86: 1908–1912.Morris H.A. Vitamin D: A Hormone for All Seasons – How much is enough, Understanding the New Pressures. Clin Biochem 2004; 25: 21–32.Morris H.A. Vitamin D: A Hormone for All Seasons – How much is enough, Understanding the New Pressures. Clin Biochem 2004; 25: 21–32.Sockalosky J.J., Ulstrom R.A., DeLuca H.F., Brown D.M. Vitamin D-resistant rickets: end-organ unresponsiveness to 1,25(OH)2D3. J Pediatrics 1980; 96: 701–703.Sockalosky J.J., Ulstrom R.A., DeLuca H.F., Brown D.M. Vitamin D-resistant rickets: end-organ unresponsiveness to 1,25(OH)2D3. J Pediatrics 1980; 96: 701–703.Malloy P.J., Tiosano D., Feldman D. Hereditary 1,25-Dihydroxyvitamin-D-Resistant Rickets. Vitamin D. Academic Press, 2011; 2: 1197–1232. DOI: 10.1016/B978-0-12-3819789.10065-4Malloy P.J., Tiosano D., Feldman D. Hereditary 1,25-Dihydroxyvitamin-D-Resistant Rickets. Vitamin D. Academic Press, 2011; 2: 1197–1232. DOI: 10.1016/B978-0-12-3819789.10065-4Malloy P.J., Pike J.W., Feldman D. The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets. Endocrine Reviews 1999; 20 (2): 156–188.Malloy P.J., Pike J.W., Feldman D. The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets. Endocrine Reviews 1999; 20 (2): 156–188.Sutton A.L.M., MacDonald P.N. Vitamin D: More Than a “Bone-a-Fide” Hormone. Molecul Endocrinol 2003; 17 (5): 777–791. DOI: 10.1210/me.2002-0363Sutton A.L.M., MacDonald P.N. Vitamin D: More Than a “Bone-a-Fide” Hormone. Molecul Endocrinol 2003; 17 (5): 777–791. DOI: 10.1210/me.2002-0363Fremont O.T., Chan J.C.M. Understanding Bartter syndrome and Gitelman syndrome. World J Pediatr 2012; 8 (1): 25–30. DOI: 10.1007/s12519-012-0333-9Fremont O.T., Chan J.C.M. Understanding Bartter syndrome and Gitelman syndrome. World J Pediatr 2012; 8 (1): 25–30. DOI: 10.1007/s12519-012-0333-9Stover E.H., Borthwick K.J., Bavalia C., Eady N., Fritz D.M., Rungroj N. et al. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet 2002; 39: 796–803.Stover E.H., Borthwick K.J., Bavalia C., Eady N., Fritz D.M., Rungroj N. et al. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet 2002; 39: 796–803.Feldman M., Prikis M., Athanasiou Y., Elia A., Pierides A., Deltas C.C. Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene. Clin Genet 2006; 69: 135–144. DOI: 10.1111/j.1399-0004.2006.00559.xFeldman M., Prikis M., Athanasiou Y., Elia A., Pierides A., Deltas C.C. Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene. Clin Genet 2006; 69: 135–144. DOI: 10.1111/j.1399-0004.2006.00559.xElmonem M.A., Veys K. R., Soliman N.A., van Dyck M., van den Heuvel L.P., Levtchenko E. Cystinosis: a review. Orphanet J Rare Dis 2016; 11: 47–49. DOI: 10.1186/s13023-016-0426-yElmonem M.A., Veys K. R., Soliman N.A., van Dyck M., van den Heuvel L.P., Levtchenko E. Cystinosis: a review. Orphanet J Rare Dis 2016; 11: 47–49. DOI: 10.1186/s13023-016-0426-yFrancesco E., Nesterova G., Langman C., Labbé A., Cherqui S., Goodyer P. et al. Nephropathic cystinosis: an international consensus document. Nephrology Dialysis Transplantation 2014; 29 (4): 87–94. DOI: 10.1093/ndt/gfu090Francesco E., Nesterova G., Langman C., Labbé A., Cherqui S., Goodyer P. et al. Nephropathic cystinosis: an international consensus document. Nephrology Dialysis Transplantation 2014; 29 (4): 87–94. DOI: 10.1093/ndt/gfu090Haque S.K., Ariceta G., Batlle D. Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies. Nephrology Dialysis Transplantation 2012; 27 (12): 4273–4287. DOI: 10.1093/ndt/gfs493Haque S.K., Ariceta G., Batlle D. Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies. Nephrology Dialysis Transplantation 2012; 27 (12): 4273–4287. DOI: 10.1093/ndt/gfs493Sirac C., Bridoux F., Essig M., Devuyst O., Touchard G., Cogné M. Toward understanding renal Fanconi syndrome: step by step advances through experimental models. Contrib Nephrol 2011; 169: 247–261. DOI: 10.1159/000313962Sirac C., Bridoux F., Essig M., Devuyst O., Touchard G., Cogné M. Toward understanding renal Fanconi syndrome: step by step advances through experimental models. Contrib Nephrol 2011; 169: 247–261. DOI: 10.1159/000313962Захарова Е.Ю., Каменец Е.А., Иткис Ю.С., Крылова Т.Д., Прошлякова Т.Ю., Милованова Н.В. Таргетные панели генов и оценка их эффективности для диагностики наследственных болезней обмена веществ. Мат. Второй Международной научно-практической конференции «NGS в медицинской генетике». Суздаль, 2017; 12–13.Zakharova E.Yu., Kamenets E.А., Itkis Yu.S., Krylova T.D., Proshlyakova T.Yu., Milovanova N.V. Target gene panels and evaluation of their effectiveness for the diagnosis of hereditary metabolic diseases. The Second International Scientific and Practical Conference «NGS in Medical Genetics». Suzdal’, 2017; 12–13. (in Russ)

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