Swollen legs and false nephrotic syndrome: a case of primary lymphatic dysplasia with intermittent chyluria
Chyluria, defined as the presence of chyle in urine, is a rare condition caused by an abnormal communication between the lymphatic system and the urinary tract. It can present with massive proteinuria and characteristic milky urine, mimicking nephrotic syndrome. We report the case of a 23-year-old w...
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SMC MEDIA SRL
2025-05-01
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| Series: | European Journal of Case Reports in Internal Medicine |
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| Online Access: | https://www.ejcrim.com/index.php/EJCRIM/article/view/5348 |
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| author | Giorgia Sasia Teresa Morgillo Christian Bracco Corrado Magnino Giulia Racca Remo Melchio Luigi Maria Fenoglio |
| author_facet | Giorgia Sasia Teresa Morgillo Christian Bracco Corrado Magnino Giulia Racca Remo Melchio Luigi Maria Fenoglio |
| author_sort | Giorgia Sasia |
| collection | DOAJ |
| description | Chyluria, defined as the presence of chyle in urine, is a rare condition caused by an abnormal communication between the lymphatic system and the urinary tract. It can present with massive proteinuria and characteristic milky urine, mimicking nephrotic syndrome. We report the case of a 23-year-old woman with a history of seronegative ocular myasthenia gravis who developed progressive bilateral lower extremity oedema and intermittent nephrotic-range proteinuria despite normal serum albumin and lipid profiles. A renal biopsy, performed to investigate proteinuria, was complicated by a subcapsular hematoma. Shortly thereafter, the patient developed dysuria, urinary retention, and milky urine, leading to the diagnosis of chyluria. Imaging revealed thrombosis of the left iliac vein, associated with hereditary thrombophilia (heterozygosity for factor V Leiden and homozygous G20210A prothrombin mutation), prompting anticoagulation therapy. Lymphoscintigraphy suggested a lympho-vesical fistula and bilateral inguinal lymph node dysplasia. Conservative management, including urinary catheterization, fluid optimization, and dietary modifications with a low-fat, medium-chain triglyceride-enriched regimen, resulted in resolution of chyluria. At 6-month follow-up, there was no recurrence of symptoms, proteinuria improved, and anticoagulation was continued. This case highlights the importance of a multidisciplinary approach in managing rare presentations of chyluria, nephrotic proteinuria, and venous thrombosis. |
| format | Article |
| id | doaj-art-e79b81c1c79b4d44a35538a78f505889 |
| institution | DOAJ |
| issn | 2284-2594 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | SMC MEDIA SRL |
| record_format | Article |
| series | European Journal of Case Reports in Internal Medicine |
| spelling | doaj-art-e79b81c1c79b4d44a35538a78f5058892025-08-20T03:07:37ZengSMC MEDIA SRLEuropean Journal of Case Reports in Internal Medicine2284-25942025-05-0110.12890/2025_0053484883Swollen legs and false nephrotic syndrome: a case of primary lymphatic dysplasia with intermittent chyluriaGiorgia Sasia0Teresa Morgillo1Christian Bracco2Corrado Magnino3Giulia Racca4Remo Melchio5Luigi Maria Fenoglio6Department of Internal Medicine, ASO Santa Croce e Carle, Cuneo, ItalyDepartment of Internal Medicine, Santa Croce and Carle General Hospital, Cuneo, ItalyDepartment of Internal Medicine, Santa Croce and Carle General Hospital, Cuneo, ItalyDepartment of Internal Medicine, Santa Croce and Carle General Hospital, Cuneo, ItalyDepartment of Internal Medicine, Santa Croce and Carle General Hospital, Cuneo, ItalyDepartment of Internal Medicine, Santa Croce and Carle General Hospital, Cuneo, Italy Department of Internal Medicine, Santa Croce and Carle General Hospital, Cuneo, ItalyChyluria, defined as the presence of chyle in urine, is a rare condition caused by an abnormal communication between the lymphatic system and the urinary tract. It can present with massive proteinuria and characteristic milky urine, mimicking nephrotic syndrome. We report the case of a 23-year-old woman with a history of seronegative ocular myasthenia gravis who developed progressive bilateral lower extremity oedema and intermittent nephrotic-range proteinuria despite normal serum albumin and lipid profiles. A renal biopsy, performed to investigate proteinuria, was complicated by a subcapsular hematoma. Shortly thereafter, the patient developed dysuria, urinary retention, and milky urine, leading to the diagnosis of chyluria. Imaging revealed thrombosis of the left iliac vein, associated with hereditary thrombophilia (heterozygosity for factor V Leiden and homozygous G20210A prothrombin mutation), prompting anticoagulation therapy. Lymphoscintigraphy suggested a lympho-vesical fistula and bilateral inguinal lymph node dysplasia. Conservative management, including urinary catheterization, fluid optimization, and dietary modifications with a low-fat, medium-chain triglyceride-enriched regimen, resulted in resolution of chyluria. At 6-month follow-up, there was no recurrence of symptoms, proteinuria improved, and anticoagulation was continued. This case highlights the importance of a multidisciplinary approach in managing rare presentations of chyluria, nephrotic proteinuria, and venous thrombosis.https://www.ejcrim.com/index.php/EJCRIM/article/view/5348intermittent chylurianephrotic syndromelymphatic fistulavenous thrombosis |
| spellingShingle | Giorgia Sasia Teresa Morgillo Christian Bracco Corrado Magnino Giulia Racca Remo Melchio Luigi Maria Fenoglio Swollen legs and false nephrotic syndrome: a case of primary lymphatic dysplasia with intermittent chyluria European Journal of Case Reports in Internal Medicine intermittent chyluria nephrotic syndrome lymphatic fistula venous thrombosis |
| title | Swollen legs and false nephrotic syndrome: a case of primary lymphatic dysplasia with intermittent chyluria |
| title_full | Swollen legs and false nephrotic syndrome: a case of primary lymphatic dysplasia with intermittent chyluria |
| title_fullStr | Swollen legs and false nephrotic syndrome: a case of primary lymphatic dysplasia with intermittent chyluria |
| title_full_unstemmed | Swollen legs and false nephrotic syndrome: a case of primary lymphatic dysplasia with intermittent chyluria |
| title_short | Swollen legs and false nephrotic syndrome: a case of primary lymphatic dysplasia with intermittent chyluria |
| title_sort | swollen legs and false nephrotic syndrome a case of primary lymphatic dysplasia with intermittent chyluria |
| topic | intermittent chyluria nephrotic syndrome lymphatic fistula venous thrombosis |
| url | https://www.ejcrim.com/index.php/EJCRIM/article/view/5348 |
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