ПОЧЕЧНЫЙ ТУБУЛЯРНЫЙ АЦИДОЗ III ТИПА У ГРУДНОГО РЕБЕНКА
Наталия Александровна Харитонова,
Милана Александровна Басаргина,
Пётр Владимирович Ананьин,
Хадижат Саварбековна Евлоева https://doi.org/10.46563/1560-9561-2021-24-1-61-65
Аннотация
Тубулопатия сопровождается дисбалансом электролитов из-за нарушения экскреции ионов водорода (I тип), нарушением обратного всасывания бикарбонатов (II тип), аномальной продукцией альдостерона или взаимодействия с ним (IV). Течение может быть бессимптомным или с проявлениями электролитных расстройств: слабостью, тошнотой, костными деформациями. Диагностика почечной ацидемии базируется на измерениях рН мочи и электролитов, данных генетических анализов. В статье описаны клиническая картина, классификация и диагностика казуистически редкого почечного тубулярного ацидоза III (комбинированного) типа у грудного ребенка, отражена значимость применения современных методов исследования для оптимизации своевременного лечения и улучшения качества жизни.
Об авторах
Наталия Александровна Харитонова
ФГАОУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава России
Россия
Россия
Милана Александровна Басаргина
ФГАОУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава России
Россия
Россия
Пётр Владимирович Ананьин
ФГАОУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава России
Россия
Россия
Хадижат Саварбековна Евлоева
ФГАОУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава России
Россия
Россия
Список литературы
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2. Вашурина Т.В., Сергеева Т.В. Ренальный тубулярный ацидоз. Нефрология и диализ. 2003; 5(2): 122-7
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6. Rodrigues-Soriano J., Vallo A. Renal tubular acidosis. Pediatr. Nephrol. 1990; 4(3): 268-75. https://doi.org/10.1007/BF00857675
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8. Batlle D., Ghanekar H., Jain S., Mitra A. Hereditary distal renal tubular acidosis: new understandings. Annu. Rev Med. 2001; 52: 471-84. https://doi.org/10.1146/annurev.med.52.1.471
9. Foreman J.W. Fanconi Syndrome. Pediatr. Clin. North Am. 2019; 66(1): 159-67. https://doi.org/10.1016/j.pcl.2018.09.002
10. Igarashi T., Sekine T., Inatomi J., Seki G. Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis. J. Am. Soc. Nephrol. 2002; 13(8): 2171-7. https://doi.org/10.1097/01.asn.0000025281.70901.30
11. Supuran C.T. Carbonic anhydrases - an overview. Curr. Pharm. Des. 2008; 14(7): 603-14. https://doi.org/10.2174/138161208783877884
12. DuBose T.D. Hyperkalemic hyperchloremic metabolic acidosis: pathophysiologic insights. Kidney Int. 1997; 51(2): 591-602. https://doi.org/10.1038/ki.1997.85
13. Sly W.S., Hewett-Emmett D., Whyte M.P., Yu Y.S.L., Tashian R.E. Carbonic anhydrase II deficiency identified as the Primary defect in the autosomal recessive syndrome of osteoporosis with renal tubular acidosis and cerebral calcification. Proc. Natl Acad. Sci. USA. 1983; 80(9): 2752-6. https://doi.org/10.1073/pnas.80.9.2752
14. Lotan D., Eisenkraft A., Jacobsson J.M. Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome. Pediatr. Nephrol. 2006; 21(3): 423-6. https://doi.org/10.1007/s00467-005-2125-0
15. Sly W.S., Shah G.N., Bonapace G., Hu P.Y., Strisciuglio P. Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation. Hum. Mutat. 2004; 24(3): 272. https://doi.org/10.1002/humu.9266
16. Whyte M.P. Carbonic anhydrase II deficiency. Clin. Orthop. Relat. Res. 1993; (294) 52-63.
17. Strisciuglio P., Sartorio R., Pecoraro C., Lotito F., Sly W.S. Variable clinical presentation of carbonic anhydrase deficiency: Evidence for heterogeneity? Eur. J. Pediatr. 1990; 149(5): 337-40. https://doi.org/10.1007/BF02171561
18. Alexander R.T., Bitzan M. Renal tubular acidosis. Pediatr. Clin. North Am. 2019; 66(1): 135-57. https://doi.org/10.1016/j.pcl.2018.08.011
19. Reddy Mh R. Osteopetrosis (marble bone disease): a rare disease in children. Int. J. Clin. Pediatr. Dent. 2011; 4(3): 232-4. https://doi.org/10.5005/jp-journals-10005-1115
20. Rodríguez Soriano J. Renal tubular acidosis: the clinical entity. J. Am. Soc. Nephrol. 2002; 13(8): 2160-70. https://doi.org/10.1097/01.asn.0000023430.92674.e5
21. Di Palmo E., Gallucci M., Tronconi E. Carbonic anhydrase II deficiency: A rare case of severe obstructive sleep apnea. Front. Pediatr. 2018; 6: 213. https://doi.org/10.3389/fped.2018.00213
22. Guibaud P., Larbre F., Freycon M.T., Genoud J. Osteopetrose et acidoserenaletubulaire: deuxcas de cette association dansunefratrie. Arch. Fr. Pediatr. 1972; 29(3): 269-86. (in French)
23. Shaik N.A., Bokhari H.A., Masoodi T.A., Shetty P.J., Ajabnoor G.M.A., Elango R., et al. Molecular modelling and dynamics of CA2 missense mutations causative to carbonic anhydrase 2 deficiency syndrome. J. Biomol. Struct. Dyn. 2020; 38(14): 4067-80. https://doi.org/10.1080/07391102.2019.1671899
24. Fathallah D.M., Bejaoui M., Lepaslier D., Chater K., Sly W.S., Dellagi K. Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus. Hum. Genet. 1997; 99(5): 634-7. https://doi.org/10.1007/s004390050419
25. Hu P.Y., Roth D.E., Skaggs L.A., Venta P.J., Tashian R.E., Guibaud P., et al. A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries. Hum. Mutat. 1992; 1(4): 288-92. https://doi.org/10.1002/humu.1380010404
26. Fathallah D.M., Bejaoui M., Sly W.S., Lakhoua R., Dellagi K. A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent. Hum. Genet. 1994; 94(5): 581-2. https://doi.org/10.1007/BF00211035
27. Cotter M., Connell T., Colhoun E., Smith O.P., McMahon C. Carbonic Anhydrase II Deficiency. A rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification. J. Pediatr. Hematol. Oncol. 2005; 27(2): 115-7. https://doi.org/10.1097/01.mph.0000154068.86987.47
28. Sh Ali A.A., Al-Mashta S.A. Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency. Saudi J. Kidney Dis. Transpl. 2013; 24(3): 561-5. https://doi.org/10.4103/1319-2442.111067
29. Marks S.C. Morphological evidence of reduced bone resorption in osteopetrotic (op) mice. Am. J. Anat. 1982; 163(2): 157-67. https://doi.org/10.1002/aja.1001630205
30. Stark Z., Savarirayan R. Osteopetrosis. Orphanet J. Rare Dis. 2009; 4: 5. https://doi.org/10.1186/1750-1172-4-5
31. Nampoothiri S., Anikster Y. Carbonic anhydrase II deficiency a novel mutation. Indian Pediatr. 2009; 46(6): 532-4.
32. Strisciuglio P., Sartorio R., Pecoraro C., Lotito F., Sly W.S. Variable clinical presentation of carbonic anhydrase deficiency: Evidence for heterogeneity? Eur. J. Pediatr. 1990; 149(5): 337-40. https://doi.org/10.1007/bf02171561
33. Di Rocco M., Buoncompagni A., Loy A., Dellacqua A. Osteopetrorickets: Case report. Eur. J. Pediatr. 2000; 159(8): 579-81. https://doi.org/10.1007/s004310000485
34. Laway B.A., Mubarik I. Renal tubular acidosis, osteopetrosis, and cerebral calcification: a rare syndrome caused by carbonic anhydrase II deficiency. Indian J. Nephrol. 2017; 27(4): 330-1. https://doi.org/10.4103/0971-4065.209347
35. Awad M., Al-Ashwal A.A., Sakati N., Al-Abbad A.A., Bin-Abbas B.S. Long-term follow up of carbonic anhydrase II deficiency syndrome. Saudi Med. J. 2002; 23(1): 25-9.
36. Nagai R., Kooh S.W., Balfe J.W., Fenton T., Halperin M.L. Renal tubular acidosis and osteopetrosos with carbonic anhydrase II deficiency: Pathogenesis of impaired acidification. Pediatr. Nephrol. 1997; 11(5): 633-6. https://doi.org/10.1007/s004670050354
37. Pelletier J., Gbadegesin R., Staples B. Renal tubular acidosis. Pediatr. Rev. 2017; 38(11): 537-9. https://doi.org/10.1542/pir.2016-0231
38. Вашурина Т.В., Сергеева Т.В. Ренальный тубулярный ацидоз. Нефрология и диализ. 2003; 5(2): 122-7
39. Kashoor I., Batlle D. Proximal renal tubular acidosis with and without Fanconi syndrome. Kidney Res. Clin. Pract. 2019; 38(3): 267-81. https://doi.org/10.23876/j.krcp.19.056
40. McSherry E., Sebastian A., Morris R.C. Renal tubular acidosis in infants: the several kinds, including bicarbonate-wasting, classic renal tubular acidosis. J. Clin Invest. 1972; 51(3): 499-514. https://doi.org/10.1172/jci106838
41. Kamel K.S., Briceno L.F., Sanchez M.D. A new classification for renal defects in net acid excretion. Am. J. Kidney Dis. 1997; 29(1): 136-46. https://doi.org/10.1016/s0272-6386(97)90021-4
42. Rodrigues-Soriano J., Vallo A. Renal tubular acidosis. Pediatr. Nephrol. 1990; 4(3): 268-75. https://doi.org/10.1007/BF00857675
43. Caldas A., Broyewr M., Dechaux M., Kleinknecht C. Primary distal tubular acidosis in childhood: Clinical study and long-term follow-up of 28 patients. J. Pediatr. 1992; 121(2): 233-41. https://doi.org/10.1016/s0022-3476(05)81194-1
44. Batlle D., Ghanekar H., Jain S., Mitra A. Hereditary distal renal tubular acidosis: new understandings. Annu. Rev Med. 2001; 52: 471-84. https://doi.org/10.1146/annurev.med.52.1.471
45. Foreman J.W. Fanconi Syndrome. Pediatr. Clin. North Am. 2019; 66(1): 159-67. https://doi.org/10.1016/j.pcl.2018.09.002
46. Igarashi T., Sekine T., Inatomi J., Seki G. Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis. J. Am. Soc. Nephrol. 2002; 13(8): 2171-7. https://doi.org/10.1097/01.asn.0000025281.70901.30
47. Supuran C.T. Carbonic anhydrases - an overview. Curr. Pharm. Des. 2008; 14(7): 603-14. https://doi.org/10.2174/138161208783877884
48. DuBose T.D. Hyperkalemic hyperchloremic metabolic acidosis: pathophysiologic insights. Kidney Int. 1997; 51(2): 591-602. https://doi.org/10.1038/ki.1997.85
49. Sly W.S., Hewett-Emmett D., Whyte M.P., Yu Y.S.L., Tashian R.E. Carbonic anhydrase II deficiency identified as the Primary defect in the autosomal recessive syndrome of osteoporosis with renal tubular acidosis and cerebral calcification. Proc. Natl Acad. Sci. USA. 1983; 80(9): 2752-6. https://doi.org/10.1073/pnas.80.9.2752
50. Lotan D., Eisenkraft A., Jacobsson J.M. Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome. Pediatr. Nephrol. 2006; 21(3): 423-6. https://doi.org/10.1007/s00467-005-2125-0
51. Sly W.S., Shah G.N., Bonapace G., Hu P.Y., Strisciuglio P. Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation. Hum. Mutat. 2004; 24(3): 272. https://doi.org/10.1002/humu.9266
52. Whyte M.P. Carbonic anhydrase II deficiency. Clin. Orthop. Relat. Res. 1993; (294) 52-63.
53. Strisciuglio P., Sartorio R., Pecoraro C., Lotito F., Sly W.S. Variable clinical presentation of carbonic anhydrase deficiency: Evidence for heterogeneity? Eur. J. Pediatr. 1990; 149(5): 337-40. https://doi.org/10.1007/BF02171561
54. Alexander R.T., Bitzan M. Renal tubular acidosis. Pediatr. Clin. North Am. 2019; 66(1): 135-57. https://doi.org/10.1016/j.pcl.2018.08.011
55. Reddy Mh R. Osteopetrosis (marble bone disease): a rare disease in children. Int. J. Clin. Pediatr. Dent. 2011; 4(3): 232-4. https://doi.org/10.5005/jp-journals-10005-1115
56. Rodríguez Soriano J. Renal tubular acidosis: the clinical entity. J. Am. Soc. Nephrol. 2002; 13(8): 2160-70. https://doi.org/10.1097/01.asn.0000023430.92674.e5
57. Di Palmo E., Gallucci M., Tronconi E. Carbonic anhydrase II deficiency: A rare case of severe obstructive sleep apnea. Front. Pediatr. 2018; 6: 213. https://doi.org/10.3389/fped.2018.00213
58. Guibaud P., Larbre F., Freycon M.T., Genoud J. Osteopetrose et acidoserenaletubulaire: deuxcas de cette association dansunefratrie. Arch. Fr. Pediatr. 1972; 29(3): 269-86. (in French)
59. Shaik N.A., Bokhari H.A., Masoodi T.A., Shetty P.J., Ajabnoor G.M.A., Elango R., et al. Molecular modelling and dynamics of CA2 missense mutations causative to carbonic anhydrase 2 deficiency syndrome. J. Biomol. Struct. Dyn. 2020; 38(14): 4067-80. https://doi.org/10.1080/07391102.2019.1671899
60. Fathallah D.M., Bejaoui M., Lepaslier D., Chater K., Sly W.S., Dellagi K. Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus. Hum. Genet. 1997; 99(5): 634-7. https://doi.org/10.1007/s004390050419
61. Hu P.Y., Roth D.E., Skaggs L.A., Venta P.J., Tashian R.E., Guibaud P., et al. A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries. Hum. Mutat. 1992; 1(4): 288-92. https://doi.org/10.1002/humu.1380010404
62. Fathallah D.M., Bejaoui M., Sly W.S., Lakhoua R., Dellagi K. A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent. Hum. Genet. 1994; 94(5): 581-2. https://doi.org/10.1007/BF00211035
63. Cotter M., Connell T., Colhoun E., Smith O.P., McMahon C. Carbonic Anhydrase II Deficiency. A rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification. J. Pediatr. Hematol. Oncol. 2005; 27(2): 115-7. https://doi.org/10.1097/01.mph.0000154068.86987.47
64. Sh Ali A.A., Al-Mashta S.A. Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency. Saudi J. Kidney Dis. Transpl. 2013; 24(3): 561-5. https://doi.org/10.4103/1319-2442.111067
65. Marks S.C. Morphological evidence of reduced bone resorption in osteopetrotic (op) mice. Am. J. Anat. 1982; 163(2): 157-67. https://doi.org/10.1002/aja.1001630205
66. Stark Z., Savarirayan R. Osteopetrosis. Orphanet J. Rare Dis. 2009; 4: 5. https://doi.org/10.1186/1750-1172-4-5
67. Nampoothiri S., Anikster Y. Carbonic anhydrase II deficiency a novel mutation. Indian Pediatr. 2009; 46(6): 532-4.
68. Strisciuglio P., Sartorio R., Pecoraro C., Lotito F., Sly W.S. Variable clinical presentation of carbonic anhydrase deficiency: Evidence for heterogeneity? Eur. J. Pediatr. 1990; 149(5): 337-40. https://doi.org/10.1007/bf02171561
69. Di Rocco M., Buoncompagni A., Loy A., Dellacqua A. Osteopetrorickets: Case report. Eur. J. Pediatr. 2000; 159(8): 579-81. https://doi.org/10.1007/s004310000485
70. Laway B.A., Mubarik I. Renal tubular acidosis, osteopetrosis, and cerebral calcification: a rare syndrome caused by carbonic anhydrase II deficiency. Indian J. Nephrol. 2017; 27(4): 330-1. https://doi.org/10.4103/0971-4065.209347
71. Awad M., Al-Ashwal A.A., Sakati N., Al-Abbad A.A., Bin-Abbas B.S. Long-term follow up of carbonic anhydrase II deficiency syndrome. Saudi Med. J. 2002; 23(1): 25-9.
72. Nagai R., Kooh S.W., Balfe J.W., Fenton T., Halperin M.L. Renal tubular acidosis and osteopetrosos with carbonic anhydrase II deficiency: Pathogenesis of impaired acidification. Pediatr. Nephrol. 1997; 11(5): 633-6. https://doi.org/10.1007/s004670050354
Рецензия
Для цитирования:
Харитонова Н.А., Басаргина М.А., Ананьин П.В., Евлоева Х.С. ПОЧЕЧНЫЙ ТУБУЛЯРНЫЙ АЦИДОЗ III ТИПА У ГРУДНОГО РЕБЕНКА. Российский педиатрический журнал. 2021;24(1):61-65. https://doi.org/10.46563/1560-9561-2021-24-1-61-65
For citation:
Kharitonova N.A., Basargina M.A., Ananin P.V., Evloeva Kh.S. A CLINICAL CASE OF RENAL TUBULAR ACIDOSIS (TYPE III) IN AN INFANT. Russian Pediatric Journal. 2021;24(1):61-65. (In Russ.) https://doi.org/10.46563/1560-9561-2021-24-1-61-65
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