An unusual presentation of LCAT deficiency as nephrotic syndrome with normal serum HDL-C level
Clinical and biochemical manifestations of lecithin-cholesterol acyltransferase (LCAT) deficiency include an abnormal lipid profile (characterized by hypercholesterolemia with markedly decreased high-density lipoprotein cholesterol [HDL-C] and hypertriglyceridemia), corneal opacities, hematologic ab...
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| Format: | Article |
| Language: | English |
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Society of Diabetic Nephropathy Prevention
2017-01-01
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| Series: | Journal of Nephropharmacology |
| Subjects: | |
| Online Access: | http://jnephropharmacology.com/PDF/NPJ-6-23.pdf |
| _version_ | 1830208821507653632 |
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| author | Manish R Balwani Vijaykumar A Ghodela Vivek B Kute Pankaj R Shah Himanshu V Patel Dinesh N Gera Aruna Vanikar Hargovind L Trivedi |
| author_facet | Manish R Balwani Vijaykumar A Ghodela Vivek B Kute Pankaj R Shah Himanshu V Patel Dinesh N Gera Aruna Vanikar Hargovind L Trivedi |
| author_sort | Manish R Balwani |
| collection | DOAJ |
| description | Clinical and biochemical manifestations of lecithin-cholesterol acyltransferase (LCAT) deficiency include an abnormal lipid profile (characterized by hypercholesterolemia with markedly decreased high-density lipoprotein cholesterol [HDL-C] and hypertriglyceridemia), corneal opacities, hematologic abnormalities (normochromic anemia of varying intensity), splenomegaly, variable early coronary artery disease and nephropathy (initially proteinuria followed by progressive deterioration of renal function). We presented a patient with nephrotic syndrome, which renal biopsy revealed classic features of LCAT deficiency. To our knowledge, the present case is the first reported case of LCAT deficiency presenting with symptoms related to nephrotic syndrome in a patient with no obvious family history without any corneal deposits and normal HDL-C levels. |
| first_indexed | 2024-12-18T04:56:02Z |
| format | Article |
| id | doaj.art-d985130d96f54de09398f8568375cd21 |
| institution | Directory Open Access Journal |
| issn | 2345-4202 |
| language | English |
| last_indexed | 2024-12-18T04:56:02Z |
| publishDate | 2017-01-01 |
| publisher | Society of Diabetic Nephropathy Prevention |
| record_format | Article |
| series | Journal of Nephropharmacology |
| spelling | doaj.art-d985130d96f54de09398f8568375cd212022-12-21T21:20:17ZengSociety of Diabetic Nephropathy PreventionJournal of Nephropharmacology2345-42022017-01-01612326NPJ_20160131202701An unusual presentation of LCAT deficiency as nephrotic syndrome with normal serum HDL-C levelManish R Balwani0Vijaykumar A Ghodela1Vivek B Kute2Pankaj R Shah3Himanshu V Patel4Dinesh N Gera5Aruna Vanikar6Hargovind L Trivedi7Department of Nephrology and Clinical Transplantation, Laboratory Medicine, Transfusion Services and Immunohematology, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Ahmedabad, IndiaDepartment of Nephrology and Clinical Transplantation, Laboratory Medicine, Transfusion Services and Immunohematology, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Ahmedabad, IndiaDepartment of Nephrology and Clinical Transplantation, Laboratory Medicine, Transfusion Services and Immunohematology, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Ahmedabad, IndiaDepartment of Nephrology and Clinical Transplantation, Laboratory Medicine, Transfusion Services and Immunohematology, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Ahmedabad, IndiaDepartment of Nephrology and Clinical Transplantation, Laboratory Medicine, Transfusion Services and Immunohematology, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Ahmedabad, IndiaDepartment of Nephrology and Clinical Transplantation, Laboratory Medicine, Transfusion Services and Immunohematology, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Ahmedabad, IndiaDepartment of Pathology, Laboratory Medicine, Transfusion Services and Immunohematology, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences, Ahmedabad, IndiaDepartment of Nephrology and Clinical Transplantation, Laboratory Medicine, Transfusion Services and Immunohematology, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Ahmedabad, IndiaClinical and biochemical manifestations of lecithin-cholesterol acyltransferase (LCAT) deficiency include an abnormal lipid profile (characterized by hypercholesterolemia with markedly decreased high-density lipoprotein cholesterol [HDL-C] and hypertriglyceridemia), corneal opacities, hematologic abnormalities (normochromic anemia of varying intensity), splenomegaly, variable early coronary artery disease and nephropathy (initially proteinuria followed by progressive deterioration of renal function). We presented a patient with nephrotic syndrome, which renal biopsy revealed classic features of LCAT deficiency. To our knowledge, the present case is the first reported case of LCAT deficiency presenting with symptoms related to nephrotic syndrome in a patient with no obvious family history without any corneal deposits and normal HDL-C levels.http://jnephropharmacology.com/PDF/NPJ-6-23.pdfLCAT deficiencyNephrotic syndromeCorneal depositAnemia |
| spellingShingle | Manish R Balwani Vijaykumar A Ghodela Vivek B Kute Pankaj R Shah Himanshu V Patel Dinesh N Gera Aruna Vanikar Hargovind L Trivedi An unusual presentation of LCAT deficiency as nephrotic syndrome with normal serum HDL-C level Journal of Nephropharmacology LCAT deficiency Nephrotic syndrome Corneal deposit Anemia |
| title | An unusual presentation of LCAT deficiency as nephrotic syndrome with normal serum HDL-C level |
| title_full | An unusual presentation of LCAT deficiency as nephrotic syndrome with normal serum HDL-C level |
| title_fullStr | An unusual presentation of LCAT deficiency as nephrotic syndrome with normal serum HDL-C level |
| title_full_unstemmed | An unusual presentation of LCAT deficiency as nephrotic syndrome with normal serum HDL-C level |
| title_short | An unusual presentation of LCAT deficiency as nephrotic syndrome with normal serum HDL-C level |
| title_sort | unusual presentation of lcat deficiency as nephrotic syndrome with normal serum hdl c level |
| topic | LCAT deficiency Nephrotic syndrome Corneal deposit Anemia |
| url | http://jnephropharmacology.com/PDF/NPJ-6-23.pdf |
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