Hereditary renal amyloidosis with a variant lysozyme p.Trp82Arg in a Chinese family: case report and literature review
Abstract Background Lysozyme amyloidosis is a rare hereditary systemic amyloidosis with amyloid deposits in various tissues leading to progressive organ failure. It has been mainly reported in developed countries since 1993. Here we report a lysozyme amyloidosis family with variant lysozyme p.Trp82A...
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| Format: | Article |
| Language: | English |
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BMC
2019-08-01
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| Series: | BMC Nephrology |
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| Online Access: | http://link.springer.com/article/10.1186/s12882-019-1496-6 |
| _version_ | 1818684540888023040 |
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| author | Zhenyu Li Hui Xu Dan Liu Danyang Li Gang Liu Su-xia Wang |
| author_facet | Zhenyu Li Hui Xu Dan Liu Danyang Li Gang Liu Su-xia Wang |
| author_sort | Zhenyu Li |
| collection | DOAJ |
| description | Abstract Background Lysozyme amyloidosis is a rare hereditary systemic amyloidosis with amyloid deposits in various tissues leading to progressive organ failure. It has been mainly reported in developed countries since 1993. Here we report a lysozyme amyloidosis family with variant lysozyme p.Trp82Arg in a Chinese family. Case presentation The main clinical manifestation of this case was dominant kidney involvement presenting with proteinuria and decreased renal function. Biopsy of the kidney showed massive amyloid deposits in the glomerular mesangium and subendothelium. Immunohistochemistry and mass spectrometry of renal tissue confirmed the lysozyme nature of the amyloid. DNA sequencing of the peripheral blood leukocytes revealed a single base-pair transition from T to C (TGG/ CGG) of codon 82, leading to the replacement of tryptophan by arginine in the mature protein (p.Trp82Arg). The affected patients in this family also presented with dominant kidney involvement, one of them has been confirmed by IHC and mass spectrometry on his renal biopsy and gene testing as well. As there is no radical therapy for lysozyme amyloidosis, patients were given symptomatic treatment such as antihypertensive drugs and antibiotics. To our knowledge, this is the first report of lysozyme amyloidosis in a Chinese family. Conclusions Hereditary amyloidosis with a variant lysozyme of p.Trp82Arg presented with dominant kidney involvement was firstly reported in a Chinese family. |
| first_indexed | 2024-12-17T10:52:16Z |
| format | Article |
| id | doaj.art-489ca64abef84b86ae18aa8f799e6a88 |
| institution | Directory Open Access Journal |
| issn | 1471-2369 |
| language | English |
| last_indexed | 2024-12-17T10:52:16Z |
| publishDate | 2019-08-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Nephrology |
| spelling | doaj.art-489ca64abef84b86ae18aa8f799e6a882022-12-21T21:51:56ZengBMCBMC Nephrology1471-23692019-08-012011610.1186/s12882-019-1496-6Hereditary renal amyloidosis with a variant lysozyme p.Trp82Arg in a Chinese family: case report and literature reviewZhenyu Li0Hui Xu1Dan Liu2Danyang Li3Gang Liu4Su-xia Wang5Laboratory of Electron Microscopy, Pathological Center, Peking University First HospitalLaboratory of Electron Microscopy, Pathological Center, Peking University First HospitalProteomics Laboratory, Medical and Healthy Analytical Center, Peking University Health Science CenterLaboratory of Electron Microscopy, Pathological Center, Peking University First HospitalRenal Division, Department of Medicine, Peking University First Hospital; Renal Pathological Center, Institute of Nephrology, Peking University; Key Laboratory of Renal Disease, Ministry of Health of China; Key Laboratory of CKD Prevention and Treatment, Ministry of Education of ChinaLaboratory of Electron Microscopy, Pathological Center, Peking University First HospitalAbstract Background Lysozyme amyloidosis is a rare hereditary systemic amyloidosis with amyloid deposits in various tissues leading to progressive organ failure. It has been mainly reported in developed countries since 1993. Here we report a lysozyme amyloidosis family with variant lysozyme p.Trp82Arg in a Chinese family. Case presentation The main clinical manifestation of this case was dominant kidney involvement presenting with proteinuria and decreased renal function. Biopsy of the kidney showed massive amyloid deposits in the glomerular mesangium and subendothelium. Immunohistochemistry and mass spectrometry of renal tissue confirmed the lysozyme nature of the amyloid. DNA sequencing of the peripheral blood leukocytes revealed a single base-pair transition from T to C (TGG/ CGG) of codon 82, leading to the replacement of tryptophan by arginine in the mature protein (p.Trp82Arg). The affected patients in this family also presented with dominant kidney involvement, one of them has been confirmed by IHC and mass spectrometry on his renal biopsy and gene testing as well. As there is no radical therapy for lysozyme amyloidosis, patients were given symptomatic treatment such as antihypertensive drugs and antibiotics. To our knowledge, this is the first report of lysozyme amyloidosis in a Chinese family. Conclusions Hereditary amyloidosis with a variant lysozyme of p.Trp82Arg presented with dominant kidney involvement was firstly reported in a Chinese family.http://link.springer.com/article/10.1186/s12882-019-1496-6Hereditary systemic amyloidosisLysozyme amyloidosisP.Trp82ArgChineseRenal involvement |
| spellingShingle | Zhenyu Li Hui Xu Dan Liu Danyang Li Gang Liu Su-xia Wang Hereditary renal amyloidosis with a variant lysozyme p.Trp82Arg in a Chinese family: case report and literature review BMC Nephrology Hereditary systemic amyloidosis Lysozyme amyloidosis P.Trp82Arg Chinese Renal involvement |
| title | Hereditary renal amyloidosis with a variant lysozyme p.Trp82Arg in a Chinese family: case report and literature review |
| title_full | Hereditary renal amyloidosis with a variant lysozyme p.Trp82Arg in a Chinese family: case report and literature review |
| title_fullStr | Hereditary renal amyloidosis with a variant lysozyme p.Trp82Arg in a Chinese family: case report and literature review |
| title_full_unstemmed | Hereditary renal amyloidosis with a variant lysozyme p.Trp82Arg in a Chinese family: case report and literature review |
| title_short | Hereditary renal amyloidosis with a variant lysozyme p.Trp82Arg in a Chinese family: case report and literature review |
| title_sort | hereditary renal amyloidosis with a variant lysozyme p trp82arg in a chinese family case report and literature review |
| topic | Hereditary systemic amyloidosis Lysozyme amyloidosis P.Trp82Arg Chinese Renal involvement |
| url | http://link.springer.com/article/10.1186/s12882-019-1496-6 |
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