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Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report

RATIONALE: Lipoprotein glomerulopathy (LPG) is a rare glomerular disease characterized by the deposition of lipoprotein thrombi in glomerular capillaries. The disease is characterized by proteinuria, progressive renal failure, and characteristic lipoprotein thrombosis in glomerular capillaries. Rare...

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Autores principales: Li, Yunsi, Chen, Jin, Zou, Yurong, Wang, Wei, Li, Guisen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8812603/
https://www.ncbi.nlm.nih.gov/pubmed/35119017
http://dx.doi.org/10.1097/MD.0000000000028718
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author Li, Yunsi
Chen, Jin
Zou, Yurong
Wang, Wei
Li, Guisen
author_facet Li, Yunsi
Chen, Jin
Zou, Yurong
Wang, Wei
Li, Guisen
author_sort Li, Yunsi
collection PubMed
description RATIONALE: Lipoprotein glomerulopathy (LPG) is a rare glomerular disease characterized by the deposition of lipoprotein thrombi in glomerular capillaries. The disease is characterized by proteinuria, progressive renal failure, and characteristic lipoprotein thrombosis in glomerular capillaries. Rare mutations in the apolipoprotein E (APOE) gene mainly contribute to disease pathogenesis. PATIENT CONCERNS: A 28-year-old man presented with severe proteinuria and hyperlipidemia. The patient was treated with a full dose of prednisone for 2 months and then combined with leflunomide 20 mg daily for 20 days; however, his edema continued to worsen. DIAGNOSIS: The patient was diagnosed LPG by laboratory examination and renal biopsy. INTERVENTIONS: The patient was treated with atorvastatin (20 mg) combined with irbesartan (75 mg) once a day. OUTCOMES: The patient's lipidaemia and proteinuria were significantly reduced. Genetic testing showed that the patient carried compound heterozygous mutations in APOE. The APOE gene was inherited from her mother and father. Parents with a heterogeneous mutation had normal kidney function without proteinuria. LESSONS: Usually, a single mutation in APOE can lead to the pathogenesis of LPG. This case shows that LPG could result from compound heterogeneous mutations of the APOE gene inherited from his mother and father. Intensive lipid-lowering combined with RASIs is effective in patients with LPG. Early renal biopsy and genetic mutation detection can avoid the unnecessary use of glucocorticoids and immunosuppressants.
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spelling pubmed-88126032022-02-18 Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report Li, Yunsi Chen, Jin Zou, Yurong Wang, Wei Li, Guisen Medicine (Baltimore) 5200 RATIONALE: Lipoprotein glomerulopathy (LPG) is a rare glomerular disease characterized by the deposition of lipoprotein thrombi in glomerular capillaries. The disease is characterized by proteinuria, progressive renal failure, and characteristic lipoprotein thrombosis in glomerular capillaries. Rare mutations in the apolipoprotein E (APOE) gene mainly contribute to disease pathogenesis. PATIENT CONCERNS: A 28-year-old man presented with severe proteinuria and hyperlipidemia. The patient was treated with a full dose of prednisone for 2 months and then combined with leflunomide 20 mg daily for 20 days; however, his edema continued to worsen. DIAGNOSIS: The patient was diagnosed LPG by laboratory examination and renal biopsy. INTERVENTIONS: The patient was treated with atorvastatin (20 mg) combined with irbesartan (75 mg) once a day. OUTCOMES: The patient's lipidaemia and proteinuria were significantly reduced. Genetic testing showed that the patient carried compound heterozygous mutations in APOE. The APOE gene was inherited from her mother and father. Parents with a heterogeneous mutation had normal kidney function without proteinuria. LESSONS: Usually, a single mutation in APOE can lead to the pathogenesis of LPG. This case shows that LPG could result from compound heterogeneous mutations of the APOE gene inherited from his mother and father. Intensive lipid-lowering combined with RASIs is effective in patients with LPG. Early renal biopsy and genetic mutation detection can avoid the unnecessary use of glucocorticoids and immunosuppressants. Lippincott Williams & Wilkins 2022-02-04 /pmc/articles/PMC8812603/ /pubmed/35119017 http://dx.doi.org/10.1097/MD.0000000000028718 Text en Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0 (https://creativecommons.org/licenses/by/4.0/)
spellingShingle 5200
Li, Yunsi
Chen, Jin
Zou, Yurong
Wang, Wei
Li, Guisen
Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report
title Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report
title_full Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report
title_fullStr Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report
title_full_unstemmed Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report
title_short Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report
title_sort lipoprotein glomerulopathy resulting from compound heterogeneous mutations of apoe gene: a case report
topic 5200
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8812603/
https://www.ncbi.nlm.nih.gov/pubmed/35119017
http://dx.doi.org/10.1097/MD.0000000000028718
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