A Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria: A Case Report and Review of the Literature
Main Article Content
Keywords
bone disease, renal tubular acidosis, Wilson’s disease
Abstract
We report a short-statured, 39-year-old male presenting with recurrent kidney stones, history of refractory rickets, and bone deformity. He had been consuming multiple doses of calcium supplements and multiple courses of vitamin D over past 30 years before prior to reporting in our clinic without any significant laboratory or clinical improvement. The patient was diagnosed as having Fanconi’s syndrome attributable to Wilson’s disease. This patient highlighted that in case of resistant rickets, a high index of uncertainty must be invoked for Wilson’s disease. Appropriate timely recognition of this entity results in prompt ministrations and prevention of disability. We also presented and discussed reviews on Wilson’s disease from literature.
References
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5. Bajpai A, Bardia A, Mantan M, Hari P, Bagga A. Non-azotemic refractory rickets in Indian children. Indian Pediatr. 2005;42:23–30.
6. Kashoor I, Batlle D. Proximal renal tubular acidosis with and without Fanconi syndrome. Kidney Res Clin Pract. 2019 Sep 30;38(3):267–281. 10.23876/j.krcp.19.056
7. Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int. 2003 Jun;23(3):139-42. 10.1034/j.1600-0676.2003.00824.x
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9. Kalra V, Mahajan S, Kesarwani PK. Rare presentation of Wilson’s disease: A case report. Int Urol Nephrol. 2004;36(2):289–91.10.1023/B:UROL.0000034630.73124.36
10. Dziezfiyc-Jaworska K, Litwin T, Członkowska A. Clinical manifestations of Wilson’s disease in organs other than the liver and brain. Ann Transl Med. 2019 Apr;7(Suppl 2):S62. 10.21037/atm.2019.03.30. PMid: 31179299; PMCID: PMC6531658.
11. Wilson SAK. Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver. Brain. 1912;34(4):295–507. 10.1093/brain/34.4.295.
12. Sandahl TD, Laursen TL, Munk DE, Vilstrup H, Weiss KH, Ott P. The prevalence of Wilson’s disease. An update. Hepatology. 2020;71:722–32. 10.1002/hep.30911.
13. Vogt A. Kupfer und silber aufgespeichert in auge, leber, milz und nieren als symptoms der pseudosklerose. Klin Mbl Augenheilk 1929;83:417–419.
14. Weiss KH, Van de Moortele M, Gotthardt DN, Pfeiffenberger J, Seeßle J, Ullrich E, et al. Bone demineralisation in a large cohort of Wilson’s disease patients. J Inherit Metab Dis. 2015;38:949–956. 10.1007/s10545-015-9815-y
15. Yu H, Xie JJ, Chen YC, Dong QY, Dong Y, Ni W, et al. Clinical features and outcome in patients with osseomuscular type of Wilson’s disease. BMC Neurol. 2017;17:34. 10.1186/s12883-017-0818-1
16. Li Z, Yu X, Shen J, Liang J. Congential scoliosis in Wilson’s disease: Case report and review of the literature. BMC Surg. 2014;14:71. 10.1186/1471-2482-14-71
17. Aslan B, Erdoğan H, Yazısız V. The view of joints in the Wilson’s disease. Eur J Rheumatol. 2020 Apr 28;7(4):205–6. 10.5152/eurjrheum.2020.19184. Epub ahead of print. PMid: 32384047; PMCID: PMC7574760.
18. Merle U, Schaefer M, Ferenci P,Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: A cohort study. Gut. 2007;56:115–120. 10.1136/gut.2005.087262
19. Selvan C, Thukral A, Chakraborthy PP, Rana B, Ajitesh R, Soumik G, et al. Refractory rickets due to Fanconi’s Syndrome secondary to Wilson’s disease. Indian J Endocrinol Metab. 2012;16(Suppl 2):S399–401. 10.4103/2230-8210.104107
20. Goyal JP, Kumar N, Rao SS, Shahl VB. Wilson’s disease presenting as resistant rickets. Gastroenterology Res. 2011;4:34–5. 10.4021/gr262w
21. Verma R, Junewar V, Sahu R. Pathological fractures as an initial presentation of Wilson’s disease. BMJ Case Rep 2013; 2013: pii: bcr2013008857. 10.1136/bcr-2013-008857. PMid: 23576656.
22. Tsuchiya M, Takaki R, Kobayashi F, Nagasaka T, Shindo K, Takiyama Y. Multiple pseudofractures due to Fanconi’s syndrome associated with Wilson’s disease. Rinsho Shinkeigaku. 2017 Sep 30;57(9):527–30. Japanese. 10.5692/clinicalneurol.cn-000953. Epub 2017 Aug 31. PMid: 28855492.
23. Bhatnagar N, Lingaiah P, Lodhi JS, Karkhur Y. Pathological fracture of femoral neck leading to a diagnosis of Wilson’s Disease: A case report and review of literature. J Bone Metab. 2017 May;24(2):135–9. 10.11005/jbm.2017.24.2.135. Epub 2017 May 31.
24. Rodríguez Nieva N, Febrer Rotger A, Meléndez Plumed M, Vernet Bori A. Osteoarthropathy in three siblings with Wilson’s disease. Ann Pediatr (Barc). 2004;61:181–4. 10.1016/S1695-4033(04)78379-4
25. Quemeneur AS, Trocello JM, Ea HK, Ostertag A, Leyendecker A, Duclos-Vallée JC, et al. Bone status and fractures in 85 adults with Wilson’s disease. Osteoporos Int. 2014;25:2573–80. 10.1007/s00198-014-2806-2
26. Park NH, Kim HS, Yi SY, Min BC. Multiple osteochondritis dissecans of knee joint in a patient with Wilson’s disease, focusing on magnetic resonance findings. Knee Surg Relat Res. 2013;25:225–9. 10.5792/ksrr.2013.25.4.225
27. Aggarwal A, Aggarwal N, Nagral A , Jankharia G, Bhatt M. A novel Global Assessment Scale for Wilson’s disease (GAS for WD). Mov Disord. 2009;24:509–18. 10.1002/mds.22231
28. Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: A cohort study. Gut. 2007 Jan;56(1):115–20. 10.1136/gut.2005.087262. Epub 2006 May 18. PMid: 16709660; PMCID: PMC1856673.
29. Schilsky ML. Wilson disease: genetic basis of copper toxicity and natural history. Semin Liver Dis. 1996 Feb;16(1):83–95. 10.1055/s-2007-1007221.
30. Brewer GJ. Recognition, diagnosis, and management of Wilson’s disease. Proc Soc Exp Biol Med. 2000;22:339–46.
31. Morgan HG, Stewart WK, Lowe KG, Stowers JM, Johnstone JH. Wilson’s disease and the Fanconi syndrome. Q J Med. 1962;31:361–84.
32. Mehta RS, Shinde VA. Wilson’s disease with rickets. Neurol India. 1965;13:67–73.
33. Kabra SK, Bagga A, Malkani I. Wilson’s disease presenting with refractory rickets. Indian Pediatr. 1990;27:395–7.
34. Goyal JP, Kumar N, Rao SS, Shah VB. Wilson’s disease presenting as resistant rickets. Gastroenterol Res. 2011;4:34–5. 10.4021/gr262w
35. Joshua GE. Hepatolenticular degeneration (Wilson’s disease) and rickets in children. Indian J Med Res. 1973;61:1876–84.
36. Basu M. Wilson’s disease presenting as a case of resistant rickets. Sri Lanka J Child Health. 2014;43:106–7. 10.4038/sljch.v43i2.7014
37. Ghosh JB, Chakrabarty S, Singh AK, Gupta D. Wilson’s disease—Unusual features. Indian J Pediatr. 2004;71:937–8. 10.1007/BF02830841
38. Patel B, Sardana V. Wilson’s disease presenting as resistant rickets without Fanconi syndrome. Indian J Case Rep. 2020;6(2):90–2. 10.32677/IJCR.2020.v06.i02.016
39. Palkar AV, Shrivastava MS, Padwal NJ, Padhiyar RN, Moulick N. Renal tubular acidosis due to Wilson’s disease presenting as metabolic bone disease. BMJ Case Rep. 2011 Aug 11;2011:bcr0420114121. 10.1136/bcr.04.2011.4121. PMid: 22688476; PMCID: PMC3158360.
40. Subrahmanyam DK, Vadivelan M, Giridharan S, Balamurugan N. Wilson’s disease–A rare cause of renal tubular acidosis with metabolic bone disease. Indian J Nephrol. 2014;24(3):171–174. 10.4103/0971-4065.132017.
41. Osther PJ, Hansen AB, Røhl HF. Distal renal tubular acidosis in recurrent renal stone formers. Dan Med Bull. 1989 Oct;36(5):492–3. PMid: 2805826
42. Tesar V, Mokrejsová M, Marecek Z, Petrtýl J. Distál nírenální tubul árníacidóza u pacientů s Wilson ovouchorobou [Distal renal tubular acidosis in patients with Wilson’s disease]. Sb Lek. 1991 Oct;93(9–10):315–23. Czech. PMid: 1821465.
43. Fuster DG, Moe OW. Incomplete distal renal tubular acidosis and kidney stones. Adv Chronic Kidney Dis. 2018 Jul;25(4): 366–74. 10.1053/j.ackd.2018.05.007. PMid: 30139463; PMCID: PMC7932558.
44. Ağbas¸ A, Bay ED, Bas¸aran MK, Ifikizceli T, Kayhan GK, Özlük Y. Nephrotic range proteinuria in an adolescent with a diagnosis of Wilson’s disease: Questions. Pediatr Nephrol. 2021 Jul;36(7):2101–2102. 10.1007/s00467-021-04947-7. Epub 2021 Feb 2.
45. Clarke BL, Wynne AG, Wilson DM, Fitzpatrick LA. Osteomalacia associated with adult Fanconi’s syndrome: Clinical and diagnostic features. Clin Endocrinol (Oxf). 1995 Oct; 43(4):479–90. 10.1111/j.1365-2265.1995.tb02621.x. PMid: 7586624.
46. Palkar AV, Shrivastava MS, Padwal NJ, Padhiyar RN, Moulick N. Renal tubular acidosis due to Wilson’s disease presenting as metabolic bone disease. BMJ Case Rep. 2011 Aug 11;2011:bcr0420114121. 10.1136/bcr.04.2011.4121. PMid: 22688476; PMCID: PMC3158360.
47. Shin JJ, Lee JP, Rah JH. Fracture in a young male patient leading to the diagnosis of Wilson’s disease: A case report. J Bone Metab. 2015;22:33–7. 10.11005/jbm.2015.22.1.33
48. Kapoor N, Cherian KE, Sajith KG, Thomas M, Eapen CE, Thomas N, et. al Renal tubular function, bone health and body composition in Wilson’s disease: A cross-sectional study from India. Calcif Tissue Int. 2019;105:459–65. 10.1007/s00223-019-00588-z
49. Chenbhanich J, Thongprayoon C, Atsawarungruangkit A, Phupitakphol T, Cheungpasitporn W. Osteoporosis and bone mineral density in patients with Wilson’s disease: A systematic review and meta-analysis. Osteoporos Int. 2018 Feb;29(2):315–22. 10.1007/s00198-017-4295-6. Epub 2017 Nov 6. PMid: 29110062.
50. Yu H, Xie JJ, Chen YC, Dong QY, Dong Y, Ni W, et al. Clinical features and outcome in patients with osseomuscular type of Wilson’s disease. BMC Neurol. 2017 Feb 17;17(1):34. 10.1186/s12883-017-0818-1. PMid: 28212618; PMCID: PMC5316220.
51. Kumar T, Thakar A. Ayurvedic approach for management of Wilson’s disease: A case report. J Ayurveda Integr Med. 2020 Apr–Jun;11(2):177–80. 10.1016/j.jaim.2019.09.004. Epub 2020 Feb 7. PMid: 32044225; PMCID: PMC7329710.
52. Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: A cohort study. Gut. 2007 Jan;56(1):115–20. 10.1136/gut.2005.087262. Epub 2006 May 18. PMid: 16709660; PMCID: PMC1856673.
2. Rodriguez-Soriano J. Renal tubular acidosis: The clinical entity. J Am Soc Nephrol. 2002;13:2160–70. 10.1097/01.ASN.0000023430.92674.E5
3. Taly AB, Prashanth LK, Sinha S. Wilson’s disease: An Indian perspective. Neurol India. 2009;57:528–40. 10.4103/0028-3886.57789
4. Goyal JA, Kumar N, Rao SS, Shah VB. Wilson’s disease presenting as resistant rickets. Gastroenterol Res. 2011;4:34–5. 10.4021/gr262w
5. Bajpai A, Bardia A, Mantan M, Hari P, Bagga A. Non-azotemic refractory rickets in Indian children. Indian Pediatr. 2005;42:23–30.
6. Kashoor I, Batlle D. Proximal renal tubular acidosis with and without Fanconi syndrome. Kidney Res Clin Pract. 2019 Sep 30;38(3):267–281. 10.23876/j.krcp.19.056
7. Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int. 2003 Jun;23(3):139-42. 10.1034/j.1600-0676.2003.00824.x
8. Wiebers DO, Wilson DM, McLeod RA, Goldstein NP. Renal stones in Wilson’s disease. Am J Med. 1979 Aug;67(2):249–54. 10.1016/0002-9343(79)90399-1. PMid: 463930.
9. Kalra V, Mahajan S, Kesarwani PK. Rare presentation of Wilson’s disease: A case report. Int Urol Nephrol. 2004;36(2):289–91.10.1023/B:UROL.0000034630.73124.36
10. Dziezfiyc-Jaworska K, Litwin T, Członkowska A. Clinical manifestations of Wilson’s disease in organs other than the liver and brain. Ann Transl Med. 2019 Apr;7(Suppl 2):S62. 10.21037/atm.2019.03.30. PMid: 31179299; PMCID: PMC6531658.
11. Wilson SAK. Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver. Brain. 1912;34(4):295–507. 10.1093/brain/34.4.295.
12. Sandahl TD, Laursen TL, Munk DE, Vilstrup H, Weiss KH, Ott P. The prevalence of Wilson’s disease. An update. Hepatology. 2020;71:722–32. 10.1002/hep.30911.
13. Vogt A. Kupfer und silber aufgespeichert in auge, leber, milz und nieren als symptoms der pseudosklerose. Klin Mbl Augenheilk 1929;83:417–419.
14. Weiss KH, Van de Moortele M, Gotthardt DN, Pfeiffenberger J, Seeßle J, Ullrich E, et al. Bone demineralisation in a large cohort of Wilson’s disease patients. J Inherit Metab Dis. 2015;38:949–956. 10.1007/s10545-015-9815-y
15. Yu H, Xie JJ, Chen YC, Dong QY, Dong Y, Ni W, et al. Clinical features and outcome in patients with osseomuscular type of Wilson’s disease. BMC Neurol. 2017;17:34. 10.1186/s12883-017-0818-1
16. Li Z, Yu X, Shen J, Liang J. Congential scoliosis in Wilson’s disease: Case report and review of the literature. BMC Surg. 2014;14:71. 10.1186/1471-2482-14-71
17. Aslan B, Erdoğan H, Yazısız V. The view of joints in the Wilson’s disease. Eur J Rheumatol. 2020 Apr 28;7(4):205–6. 10.5152/eurjrheum.2020.19184. Epub ahead of print. PMid: 32384047; PMCID: PMC7574760.
18. Merle U, Schaefer M, Ferenci P,Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: A cohort study. Gut. 2007;56:115–120. 10.1136/gut.2005.087262
19. Selvan C, Thukral A, Chakraborthy PP, Rana B, Ajitesh R, Soumik G, et al. Refractory rickets due to Fanconi’s Syndrome secondary to Wilson’s disease. Indian J Endocrinol Metab. 2012;16(Suppl 2):S399–401. 10.4103/2230-8210.104107
20. Goyal JP, Kumar N, Rao SS, Shahl VB. Wilson’s disease presenting as resistant rickets. Gastroenterology Res. 2011;4:34–5. 10.4021/gr262w
21. Verma R, Junewar V, Sahu R. Pathological fractures as an initial presentation of Wilson’s disease. BMJ Case Rep 2013; 2013: pii: bcr2013008857. 10.1136/bcr-2013-008857. PMid: 23576656.
22. Tsuchiya M, Takaki R, Kobayashi F, Nagasaka T, Shindo K, Takiyama Y. Multiple pseudofractures due to Fanconi’s syndrome associated with Wilson’s disease. Rinsho Shinkeigaku. 2017 Sep 30;57(9):527–30. Japanese. 10.5692/clinicalneurol.cn-000953. Epub 2017 Aug 31. PMid: 28855492.
23. Bhatnagar N, Lingaiah P, Lodhi JS, Karkhur Y. Pathological fracture of femoral neck leading to a diagnosis of Wilson’s Disease: A case report and review of literature. J Bone Metab. 2017 May;24(2):135–9. 10.11005/jbm.2017.24.2.135. Epub 2017 May 31.
24. Rodríguez Nieva N, Febrer Rotger A, Meléndez Plumed M, Vernet Bori A. Osteoarthropathy in three siblings with Wilson’s disease. Ann Pediatr (Barc). 2004;61:181–4. 10.1016/S1695-4033(04)78379-4
25. Quemeneur AS, Trocello JM, Ea HK, Ostertag A, Leyendecker A, Duclos-Vallée JC, et al. Bone status and fractures in 85 adults with Wilson’s disease. Osteoporos Int. 2014;25:2573–80. 10.1007/s00198-014-2806-2
26. Park NH, Kim HS, Yi SY, Min BC. Multiple osteochondritis dissecans of knee joint in a patient with Wilson’s disease, focusing on magnetic resonance findings. Knee Surg Relat Res. 2013;25:225–9. 10.5792/ksrr.2013.25.4.225
27. Aggarwal A, Aggarwal N, Nagral A , Jankharia G, Bhatt M. A novel Global Assessment Scale for Wilson’s disease (GAS for WD). Mov Disord. 2009;24:509–18. 10.1002/mds.22231
28. Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: A cohort study. Gut. 2007 Jan;56(1):115–20. 10.1136/gut.2005.087262. Epub 2006 May 18. PMid: 16709660; PMCID: PMC1856673.
29. Schilsky ML. Wilson disease: genetic basis of copper toxicity and natural history. Semin Liver Dis. 1996 Feb;16(1):83–95. 10.1055/s-2007-1007221.
30. Brewer GJ. Recognition, diagnosis, and management of Wilson’s disease. Proc Soc Exp Biol Med. 2000;22:339–46.
31. Morgan HG, Stewart WK, Lowe KG, Stowers JM, Johnstone JH. Wilson’s disease and the Fanconi syndrome. Q J Med. 1962;31:361–84.
32. Mehta RS, Shinde VA. Wilson’s disease with rickets. Neurol India. 1965;13:67–73.
33. Kabra SK, Bagga A, Malkani I. Wilson’s disease presenting with refractory rickets. Indian Pediatr. 1990;27:395–7.
34. Goyal JP, Kumar N, Rao SS, Shah VB. Wilson’s disease presenting as resistant rickets. Gastroenterol Res. 2011;4:34–5. 10.4021/gr262w
35. Joshua GE. Hepatolenticular degeneration (Wilson’s disease) and rickets in children. Indian J Med Res. 1973;61:1876–84.
36. Basu M. Wilson’s disease presenting as a case of resistant rickets. Sri Lanka J Child Health. 2014;43:106–7. 10.4038/sljch.v43i2.7014
37. Ghosh JB, Chakrabarty S, Singh AK, Gupta D. Wilson’s disease—Unusual features. Indian J Pediatr. 2004;71:937–8. 10.1007/BF02830841
38. Patel B, Sardana V. Wilson’s disease presenting as resistant rickets without Fanconi syndrome. Indian J Case Rep. 2020;6(2):90–2. 10.32677/IJCR.2020.v06.i02.016
39. Palkar AV, Shrivastava MS, Padwal NJ, Padhiyar RN, Moulick N. Renal tubular acidosis due to Wilson’s disease presenting as metabolic bone disease. BMJ Case Rep. 2011 Aug 11;2011:bcr0420114121. 10.1136/bcr.04.2011.4121. PMid: 22688476; PMCID: PMC3158360.
40. Subrahmanyam DK, Vadivelan M, Giridharan S, Balamurugan N. Wilson’s disease–A rare cause of renal tubular acidosis with metabolic bone disease. Indian J Nephrol. 2014;24(3):171–174. 10.4103/0971-4065.132017.
41. Osther PJ, Hansen AB, Røhl HF. Distal renal tubular acidosis in recurrent renal stone formers. Dan Med Bull. 1989 Oct;36(5):492–3. PMid: 2805826
42. Tesar V, Mokrejsová M, Marecek Z, Petrtýl J. Distál nírenální tubul árníacidóza u pacientů s Wilson ovouchorobou [Distal renal tubular acidosis in patients with Wilson’s disease]. Sb Lek. 1991 Oct;93(9–10):315–23. Czech. PMid: 1821465.
43. Fuster DG, Moe OW. Incomplete distal renal tubular acidosis and kidney stones. Adv Chronic Kidney Dis. 2018 Jul;25(4): 366–74. 10.1053/j.ackd.2018.05.007. PMid: 30139463; PMCID: PMC7932558.
44. Ağbas¸ A, Bay ED, Bas¸aran MK, Ifikizceli T, Kayhan GK, Özlük Y. Nephrotic range proteinuria in an adolescent with a diagnosis of Wilson’s disease: Questions. Pediatr Nephrol. 2021 Jul;36(7):2101–2102. 10.1007/s00467-021-04947-7. Epub 2021 Feb 2.
45. Clarke BL, Wynne AG, Wilson DM, Fitzpatrick LA. Osteomalacia associated with adult Fanconi’s syndrome: Clinical and diagnostic features. Clin Endocrinol (Oxf). 1995 Oct; 43(4):479–90. 10.1111/j.1365-2265.1995.tb02621.x. PMid: 7586624.
46. Palkar AV, Shrivastava MS, Padwal NJ, Padhiyar RN, Moulick N. Renal tubular acidosis due to Wilson’s disease presenting as metabolic bone disease. BMJ Case Rep. 2011 Aug 11;2011:bcr0420114121. 10.1136/bcr.04.2011.4121. PMid: 22688476; PMCID: PMC3158360.
47. Shin JJ, Lee JP, Rah JH. Fracture in a young male patient leading to the diagnosis of Wilson’s disease: A case report. J Bone Metab. 2015;22:33–7. 10.11005/jbm.2015.22.1.33
48. Kapoor N, Cherian KE, Sajith KG, Thomas M, Eapen CE, Thomas N, et. al Renal tubular function, bone health and body composition in Wilson’s disease: A cross-sectional study from India. Calcif Tissue Int. 2019;105:459–65. 10.1007/s00223-019-00588-z
49. Chenbhanich J, Thongprayoon C, Atsawarungruangkit A, Phupitakphol T, Cheungpasitporn W. Osteoporosis and bone mineral density in patients with Wilson’s disease: A systematic review and meta-analysis. Osteoporos Int. 2018 Feb;29(2):315–22. 10.1007/s00198-017-4295-6. Epub 2017 Nov 6. PMid: 29110062.
50. Yu H, Xie JJ, Chen YC, Dong QY, Dong Y, Ni W, et al. Clinical features and outcome in patients with osseomuscular type of Wilson’s disease. BMC Neurol. 2017 Feb 17;17(1):34. 10.1186/s12883-017-0818-1. PMid: 28212618; PMCID: PMC5316220.
51. Kumar T, Thakar A. Ayurvedic approach for management of Wilson’s disease: A case report. J Ayurveda Integr Med. 2020 Apr–Jun;11(2):177–80. 10.1016/j.jaim.2019.09.004. Epub 2020 Feb 7. PMid: 32044225; PMCID: PMC7329710.
52. Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: A cohort study. Gut. 2007 Jan;56(1):115–20. 10.1136/gut.2005.087262. Epub 2006 May 18. PMid: 16709660; PMCID: PMC1856673.
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Oct 7, 2021
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A Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria: A Case Report and Review of the Literature. (2021). Journal of Renal and Hepatic Disorders, 5(2), 39-44. https://doi.org/10.15586/jrenhep.v5i2.123
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Case Reports Nephrology
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