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LMX1B-ассоциированный стероид-резистентный нефротический синдром c фокально-сегментарным гломерулосклерозом (клиническое наблюдение)
LMX1B-ассоциированный стероид-резистентный нефротический синдром c фокально-сегментарным гломерулосклерозом (клиническое наблюдение)
Приходина Л.С., Столяревич Е.С., Повилайтите П.Э. LMX1B-ассоциированный стероид-резистентный нефротический синдром c фокально-сегментарным гломерулосклерозом (клиническое наблюдение). Педиатрия. Consilium Medicum. 2025;1:38–43. DOI: 10.26442/26586630.2025.1.203093
© ООО «КОНСИЛИУМ МЕДИКУМ», 2025 г.
© ООО «КОНСИЛИУМ МЕДИКУМ», 2025 г.
________________________________________________
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Аннотация
Патогенные варианты в гене LMX1B вызывают синдром ногтей-надколенника (nail-patella), характеризующийся дисплазией надколенников, ногтей и локтей, а также поражением почек с развитием фокально-сегментарного гломерулосклероза со специфическими ультраструктурными поражениями гломерулярной базальной мембраны. Представлено клиническое наблюдение за девочкой с LMX1B-ассоциированным стероид-резистентным нефротическим синдромом (СРНС) без характерных для синдрома ногтей-надколенника экстраренальных проявлений со специфическими ультраструктурными изменениями гломерулярной базальной мембраны. Представленное клиническое наблюдение подчеркивает необходимость исключения протеинурии у членов семьи с ребенком со СРНС, а также проведения молекулярно-генетического исследования у всех детей со СРНС до назначения иммуносупрессивной терапии с включением гена LMX1B даже при изолированной патологии почек.
Ключевые слова: стероид-резистентный нефротический синдром, фокально-сегментарный гломерулосклероз, ген LMX1B, синдром ногтей-надколенника
Keywords: steroid-resistant nephrotic syndrome, focal segmental glomerulosclerosis, LMX1B gene, nail-patella syndrome
Ключевые слова: стероид-резистентный нефротический синдром, фокально-сегментарный гломерулосклероз, ген LMX1B, синдром ногтей-надколенника
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Keywords: steroid-resistant nephrotic syndrome, focal segmental glomerulosclerosis, LMX1B gene, nail-patella syndrome
Полный текст
Список литературы
1. Beals RK, Eckhardt AL. Hereditary onycho-osteodysplasia (Nail-Patella syndrome). A report of nine kindreds. J Bone Joint Surg Am. 1969;51:505-16.
2. Bongers EM, Gubler MC, Knoers NV. Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol. 2002;17:703-12.
3. Sweeney E, Fryer A, Mountford R, et al. Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet. 2003;40:153-62.
4. McIntosh I, Dunston JA, Liu L, et al. Nail patella syndrome revisited: 50 years after linkage. Ann Hum Genet. 2005;69:349-63.
5. Lemley KV. Kidney disease in nail-patella syndrome. Pediatr Nephrol. 2009;24:2345-54.
6. Chen H, Lun Y, Ovchinnikov D, et al. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet. 1998;19:51-5.
7. Dreyer SD, Zhou G, Baldini A, et al. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet. 1998;19:47-50.
8. Vollrath D, Jaramillo-Babb VL, Clough MV, et al. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet. 1998;7:1091-8.
9. Ghoumid J, Petit F, Holder-Espinasse M, et al. Nail-patella syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity. Eur J Hum Genet. 2016;24:44-50. DOI:10.1038/ejhg.2015.77
10. Tigchelaar S, Lenting A, Bongers EM, van Kampen A. Nail patella syndrome: knee symptoms and surgical outcomes. A questionnaire-based survey. Orthop Traumatol Surg Res. 2015;101(8):959-62.
11. Sabir AH, Dermanis AA, Irving M, Cheung M. Arthrogryposis as a presenting feature of nail-patella syndrome: a lesser-known feature and the perils of negative whole-genome sequencing. Clin Dysmorphol. 2020;29:177-81.
12. Proesmans W, Van Dyck M, Devriendt K. Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. Nephrol Dial Transplant. 2009;24:1335-8.
13. Harita Y, Urae S, Akashio R, et al. Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome. Eur J Hum Genet. 2020;28:1414-21.
14. Price A, Cervantes J, Lindsey S, et al. Nail-patella syndrome: clinical clues for making the diagnosis. Cutis. 2018;101:126-9.
15. Chen H. Nail-Patella Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. 2017. DOI:10.1007/978-1-4939-2401-1_172
16. Nakata T, Ishida R, Mihara Y, et al. Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation. BMC Nephrol. 2017;18:1-5. DOI:10.1186/s12882-017-0516-7
17. Boyer O, Woerner S, Yang F, et al. LMX1B mutations cause hereditary FSGS without extrarenal involvement. J Am Soc Nephrol. 2013;24(8):1216-22. DOI:10.1681/ASN.2013020171
18. Isojima T, Harita Y, Furuyama M, et al. LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy. Nephrol Dial Transplant. 2014;29(1):81-8. DOI:10.1093/ ndt/gft359.
19. Zuppan CW, Weeks DA, Cutler D. Nail-patella glomerulopathy without associated constitutional abnormalities. Ultrastruct Pathol. 2003;27:357-61.
20. Konomoto T, Imamura H, Orita M, et al. Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation. Nephrology. 2016;21:765-73. DOI:10.1111/nep.12666
21. Edwards N, Rice SJ, Raman S, et al. A novel LMX1B mutation in a family with endstage renal disease of ‘unknown cause’. Clin Kidney J. 2015;8:113-9.
22. Bongers EM, de Wijs IJ, Marcelis C, et al. Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenicmechanism underlying dominant inheritance in man. Eur J Hum Genet. 2008;16:1240-4.
23. Witzgall R. Nail-patella syndrome. Pflugers Arch. 2017;469:927-36.
24. Banno Y, Ikemiyagi M, Hamada R. et al. Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues. Pediatric Nephrol. 2024;39:2627-31. DOI:10.1007/s00467-024-06344-2
25. Trautmann A, Vivarell M, Samue S, et al. IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2020;35:1529-61.
26. Malakasioti G, Iancu D, Milovanova A, et al. A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants. Kidney Int. 2023;103:5:962-72.
27. Bongers EM, Huysmans FT, Levtchenko E, et al. Genotype phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet. 2005;13:935-46.
28. Harita Y, Kitanaka S, Isojima T, et al. Spectrum of LMX1B mutations: from nail– patella syndrome to isolated nephropathy. Pediatr Nephrol. 2017;32(10):1845-50. DOI:10.1007/s00467-016-3462-x
2. Bongers EM, Gubler MC, Knoers NV. Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol. 2002;17:703-12.
3. Sweeney E, Fryer A, Mountford R, et al. Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet. 2003;40:153-62.
4. McIntosh I, Dunston JA, Liu L, et al. Nail patella syndrome revisited: 50 years after linkage. Ann Hum Genet. 2005;69:349-63.
5. Lemley KV. Kidney disease in nail-patella syndrome. Pediatr Nephrol. 2009;24:2345-54.
6. Chen H, Lun Y, Ovchinnikov D, et al. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet. 1998;19:51-5.
7. Dreyer SD, Zhou G, Baldini A, et al. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet. 1998;19:47-50.
8. Vollrath D, Jaramillo-Babb VL, Clough MV, et al. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet. 1998;7:1091-8.
9. Ghoumid J, Petit F, Holder-Espinasse M, et al. Nail-patella syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity. Eur J Hum Genet. 2016;24:44-50. DOI:10.1038/ejhg.2015.77
10. Tigchelaar S, Lenting A, Bongers EM, van Kampen A. Nail patella syndrome: knee symptoms and surgical outcomes. A questionnaire-based survey. Orthop Traumatol Surg Res. 2015;101(8):959-62.
11. Sabir AH, Dermanis AA, Irving M, Cheung M. Arthrogryposis as a presenting feature of nail-patella syndrome: a lesser-known feature and the perils of negative whole-genome sequencing. Clin Dysmorphol. 2020;29:177-81.
12. Proesmans W, Van Dyck M, Devriendt K. Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. Nephrol Dial Transplant. 2009;24:1335-8.
13. Harita Y, Urae S, Akashio R, et al. Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome. Eur J Hum Genet. 2020;28:1414-21.
14. Price A, Cervantes J, Lindsey S, et al. Nail-patella syndrome: clinical clues for making the diagnosis. Cutis. 2018;101:126-9.
15. Chen H. Nail-Patella Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. 2017. DOI:10.1007/978-1-4939-2401-1_172
16. Nakata T, Ishida R, Mihara Y, et al. Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation. BMC Nephrol. 2017;18:1-5. DOI:10.1186/s12882-017-0516-7
17. Boyer O, Woerner S, Yang F, et al. LMX1B mutations cause hereditary FSGS without extrarenal involvement. J Am Soc Nephrol. 2013;24(8):1216-22. DOI:10.1681/ASN.2013020171
18. Isojima T, Harita Y, Furuyama M, et al. LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy. Nephrol Dial Transplant. 2014;29(1):81-8. DOI:10.1093/ ndt/gft359.
19. Zuppan CW, Weeks DA, Cutler D. Nail-patella glomerulopathy without associated constitutional abnormalities. Ultrastruct Pathol. 2003;27:357-61.
20. Konomoto T, Imamura H, Orita M, et al. Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation. Nephrology. 2016;21:765-73. DOI:10.1111/nep.12666
21. Edwards N, Rice SJ, Raman S, et al. A novel LMX1B mutation in a family with endstage renal disease of ‘unknown cause’. Clin Kidney J. 2015;8:113-9.
22. Bongers EM, de Wijs IJ, Marcelis C, et al. Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenicmechanism underlying dominant inheritance in man. Eur J Hum Genet. 2008;16:1240-4.
23. Witzgall R. Nail-patella syndrome. Pflugers Arch. 2017;469:927-36.
24. Banno Y, Ikemiyagi M, Hamada R. et al. Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues. Pediatric Nephrol. 2024;39:2627-31. DOI:10.1007/s00467-024-06344-2
25. Trautmann A, Vivarell M, Samue S, et al. IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2020;35:1529-61.
26. Malakasioti G, Iancu D, Milovanova A, et al. A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants. Kidney Int. 2023;103:5:962-72.
27. Bongers EM, Huysmans FT, Levtchenko E, et al. Genotype phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet. 2005;13:935-46.
28. Harita Y, Kitanaka S, Isojima T, et al. Spectrum of LMX1B mutations: from nail– patella syndrome to isolated nephropathy. Pediatr Nephrol. 2017;32(10):1845-50. DOI:10.1007/s00467-016-3462-x
2. Bongers EM, Gubler MC, Knoers NV. Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol. 2002;17:703-12.
3. Sweeney E, Fryer A, Mountford R, et al. Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet. 2003;40:153-62.
4. McIntosh I, Dunston JA, Liu L, et al. Nail patella syndrome revisited: 50 years after linkage. Ann Hum Genet. 2005;69:349-63.
5. Lemley KV. Kidney disease in nail-patella syndrome. Pediatr Nephrol. 2009;24:2345-54.
6. Chen H, Lun Y, Ovchinnikov D, et al. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet. 1998;19:51-5.
7. Dreyer SD, Zhou G, Baldini A, et al. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet. 1998;19:47-50.
8. Vollrath D, Jaramillo-Babb VL, Clough MV, et al. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet. 1998;7:1091-8.
9. Ghoumid J, Petit F, Holder-Espinasse M, et al. Nail-patella syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity. Eur J Hum Genet. 2016;24:44-50. DOI:10.1038/ejhg.2015.77
10. Tigchelaar S, Lenting A, Bongers EM, van Kampen A. Nail patella syndrome: knee symptoms and surgical outcomes. A questionnaire-based survey. Orthop Traumatol Surg Res. 2015;101(8):959-62.
11. Sabir AH, Dermanis AA, Irving M, Cheung M. Arthrogryposis as a presenting feature of nail-patella syndrome: a lesser-known feature and the perils of negative whole-genome sequencing. Clin Dysmorphol. 2020;29:177-81.
12. Proesmans W, Van Dyck M, Devriendt K. Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. Nephrol Dial Transplant. 2009;24:1335-8.
13. Harita Y, Urae S, Akashio R, et al. Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome. Eur J Hum Genet. 2020;28:1414-21.
14. Price A, Cervantes J, Lindsey S, et al. Nail-patella syndrome: clinical clues for making the diagnosis. Cutis. 2018;101:126-9.
15. Chen H. Nail-Patella Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. 2017. DOI:10.1007/978-1-4939-2401-1_172
16. Nakata T, Ishida R, Mihara Y, et al. Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation. BMC Nephrol. 2017;18:1-5. DOI:10.1186/s12882-017-0516-7
17. Boyer O, Woerner S, Yang F, et al. LMX1B mutations cause hereditary FSGS without extrarenal involvement. J Am Soc Nephrol. 2013;24(8):1216-22. DOI:10.1681/ASN.2013020171
18. Isojima T, Harita Y, Furuyama M, et al. LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy. Nephrol Dial Transplant. 2014;29(1):81-8. DOI:10.1093/ ndt/gft359.
19. Zuppan CW, Weeks DA, Cutler D. Nail-patella glomerulopathy without associated constitutional abnormalities. Ultrastruct Pathol. 2003;27:357-61.
20. Konomoto T, Imamura H, Orita M, et al. Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation. Nephrology. 2016;21:765-73. DOI:10.1111/nep.12666
21. Edwards N, Rice SJ, Raman S, et al. A novel LMX1B mutation in a family with endstage renal disease of ‘unknown cause’. Clin Kidney J. 2015;8:113-9.
22. Bongers EM, de Wijs IJ, Marcelis C, et al. Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenicmechanism underlying dominant inheritance in man. Eur J Hum Genet. 2008;16:1240-4.
23. Witzgall R. Nail-patella syndrome. Pflugers Arch. 2017;469:927-36.
24. Banno Y, Ikemiyagi M, Hamada R. et al. Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues. Pediatric Nephrol. 2024;39:2627-31. DOI:10.1007/s00467-024-06344-2
25. Trautmann A, Vivarell M, Samue S, et al. IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2020;35:1529-61.
26. Malakasioti G, Iancu D, Milovanova A, et al. A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants. Kidney Int. 2023;103:5:962-72.
27. Bongers EM, Huysmans FT, Levtchenko E, et al. Genotype phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet. 2005;13:935-46.
28. Harita Y, Kitanaka S, Isojima T, et al. Spectrum of LMX1B mutations: from nail– patella syndrome to isolated nephropathy. Pediatr Nephrol. 2017;32(10):1845-50. DOI:10.1007/s00467-016-3462-x
________________________________________________
2. Bongers EM, Gubler MC, Knoers NV. Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol. 2002;17:703-12.
3. Sweeney E, Fryer A, Mountford R, et al. Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet. 2003;40:153-62.
4. McIntosh I, Dunston JA, Liu L, et al. Nail patella syndrome revisited: 50 years after linkage. Ann Hum Genet. 2005;69:349-63.
5. Lemley KV. Kidney disease in nail-patella syndrome. Pediatr Nephrol. 2009;24:2345-54.
6. Chen H, Lun Y, Ovchinnikov D, et al. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet. 1998;19:51-5.
7. Dreyer SD, Zhou G, Baldini A, et al. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet. 1998;19:47-50.
8. Vollrath D, Jaramillo-Babb VL, Clough MV, et al. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet. 1998;7:1091-8.
9. Ghoumid J, Petit F, Holder-Espinasse M, et al. Nail-patella syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity. Eur J Hum Genet. 2016;24:44-50. DOI:10.1038/ejhg.2015.77
10. Tigchelaar S, Lenting A, Bongers EM, van Kampen A. Nail patella syndrome: knee symptoms and surgical outcomes. A questionnaire-based survey. Orthop Traumatol Surg Res. 2015;101(8):959-62.
11. Sabir AH, Dermanis AA, Irving M, Cheung M. Arthrogryposis as a presenting feature of nail-patella syndrome: a lesser-known feature and the perils of negative whole-genome sequencing. Clin Dysmorphol. 2020;29:177-81.
12. Proesmans W, Van Dyck M, Devriendt K. Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. Nephrol Dial Transplant. 2009;24:1335-8.
13. Harita Y, Urae S, Akashio R, et al. Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome. Eur J Hum Genet. 2020;28:1414-21.
14. Price A, Cervantes J, Lindsey S, et al. Nail-patella syndrome: clinical clues for making the diagnosis. Cutis. 2018;101:126-9.
15. Chen H. Nail-Patella Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. 2017. DOI:10.1007/978-1-4939-2401-1_172
16. Nakata T, Ishida R, Mihara Y, et al. Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation. BMC Nephrol. 2017;18:1-5. DOI:10.1186/s12882-017-0516-7
17. Boyer O, Woerner S, Yang F, et al. LMX1B mutations cause hereditary FSGS without extrarenal involvement. J Am Soc Nephrol. 2013;24(8):1216-22. DOI:10.1681/ASN.2013020171
18. Isojima T, Harita Y, Furuyama M, et al. LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy. Nephrol Dial Transplant. 2014;29(1):81-8. DOI:10.1093/ ndt/gft359.
19. Zuppan CW, Weeks DA, Cutler D. Nail-patella glomerulopathy without associated constitutional abnormalities. Ultrastruct Pathol. 2003;27:357-61.
20. Konomoto T, Imamura H, Orita M, et al. Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation. Nephrology. 2016;21:765-73. DOI:10.1111/nep.12666
21. Edwards N, Rice SJ, Raman S, et al. A novel LMX1B mutation in a family with endstage renal disease of ‘unknown cause’. Clin Kidney J. 2015;8:113-9.
22. Bongers EM, de Wijs IJ, Marcelis C, et al. Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenicmechanism underlying dominant inheritance in man. Eur J Hum Genet. 2008;16:1240-4.
23. Witzgall R. Nail-patella syndrome. Pflugers Arch. 2017;469:927-36.
24. Banno Y, Ikemiyagi M, Hamada R. et al. Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues. Pediatric Nephrol. 2024;39:2627-31. DOI:10.1007/s00467-024-06344-2
25. Trautmann A, Vivarell M, Samue S, et al. IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2020;35:1529-61.
26. Malakasioti G, Iancu D, Milovanova A, et al. A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants. Kidney Int. 2023;103:5:962-72.
27. Bongers EM, Huysmans FT, Levtchenko E, et al. Genotype phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet. 2005;13:935-46.
28. Harita Y, Kitanaka S, Isojima T, et al. Spectrum of LMX1B mutations: from nail– patella syndrome to isolated nephropathy. Pediatr Nephrol. 2017;32(10):1845-50. DOI:10.1007/s00467-016-3462-x
Авторы
Л.С. Приходина*1,2, Е.С. Столяревич3,4, П.Э. Повилайтите5
1Научно-исследовательский клинический институт педиатрии и детской хирургии им. акад. Ю.Е. Вельтищева – ОСП ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России (Пироговский Университет), Москва, Россия;
2ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, Москва, Россия;
3ФГБОУ ВО «Российский университет медицины» Минздрава России, Москва, Россия;
4ГБУЗ «Городская клиническая больница №52» Департамента здравоохранения г. Москвы, Москва, Россия;
5ГБУ РО «Патолого-анатомическое бюро», Ростов-на-Дону, Россия
*Prikhodina@rambler.ru
1Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University (Pirogov University), Moscow, Russia;
2Russian Medical Academy of Continuous Professional Education, Moscow, Russia;
3Russian University of Medicine, Moscow, Russia;
4City Clinical Hospital №52, Moscow, Russia;
5Pathological and Anatomical Bureau, Rostov-on-Don, Russia
*Prikhodina@rambler.ru
1Научно-исследовательский клинический институт педиатрии и детской хирургии им. акад. Ю.Е. Вельтищева – ОСП ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России (Пироговский Университет), Москва, Россия;
2ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, Москва, Россия;
3ФГБОУ ВО «Российский университет медицины» Минздрава России, Москва, Россия;
4ГБУЗ «Городская клиническая больница №52» Департамента здравоохранения г. Москвы, Москва, Россия;
5ГБУ РО «Патолого-анатомическое бюро», Ростов-на-Дону, Россия
*Prikhodina@rambler.ru
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1Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University (Pirogov University), Moscow, Russia;
2Russian Medical Academy of Continuous Professional Education, Moscow, Russia;
3Russian University of Medicine, Moscow, Russia;
4City Clinical Hospital №52, Moscow, Russia;
5Pathological and Anatomical Bureau, Rostov-on-Don, Russia
*Prikhodina@rambler.ru
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