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The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature
BACKGROUND: Lipodystrophy syndromes are rare disorders of variable body fat loss associated with potentially serious metabolic complications. Familial partial lipodystrophy (FPLD) is mostly inherited as an autosomal dominant disorder. Renal involvement has only been reported in a limited number of c...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946515/ https://www.ncbi.nlm.nih.gov/pubmed/29747582 http://dx.doi.org/10.1186/s12882-018-0913-6 |
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author | Chen, Ru-Xuan Zhang, Lei Ye, Wei Wen, Yu-Bing Si, Nuo Li, Hang Li, Ming-Xi Li, Xue-Mei Zheng, Ke |
author_facet | Chen, Ru-Xuan Zhang, Lei Ye, Wei Wen, Yu-Bing Si, Nuo Li, Hang Li, Ming-Xi Li, Xue-Mei Zheng, Ke |
author_sort | Chen, Ru-Xuan |
collection | PubMed |
description | BACKGROUND: Lipodystrophy syndromes are rare disorders of variable body fat loss associated with potentially serious metabolic complications. Familial partial lipodystrophy (FPLD) is mostly inherited as an autosomal dominant disorder. Renal involvement has only been reported in a limited number of cases of FPLD. Herein, we present a rare case of proteinuria associated with type 4 FPLD, which is characterized by a heterozygous mutation in PLIN1 and has not been reported with renal involvement until now. CASE PRESENTATION: A 15-year-old girl presented with insulin resistance, hypertriglyceridaemia, hepatic steatosis and proteinuria. Her glucose and glycated haemoglobin levels were within normal laboratory reference ranges. A novel heterozygous frameshift mutation in PLIN1 was identified in the patient and her mother. The kidney biopsy showed glomerular enlargement and focal segmental glomerulosclerosis under light microscopy; the electron microscopy results fit with segmental thickening of the glomerular basement membrane. Treatment with an angiotensin-converting enzyme inhibitor (ACEI) decreased 24-h protein excretion. CONCLUSIONS: We report the first case of proteinuria and renal biopsy in a patient with FPLD4. Gene analysis demonstrated a novel heterozygous frameshift mutation in PLIN1 in this patient and her mother. Treatment with ACEI proved to be beneficial. |
format | Online Article Text |
id | pubmed-5946515 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-59465152018-05-17 The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature Chen, Ru-Xuan Zhang, Lei Ye, Wei Wen, Yu-Bing Si, Nuo Li, Hang Li, Ming-Xi Li, Xue-Mei Zheng, Ke BMC Nephrol Case Report BACKGROUND: Lipodystrophy syndromes are rare disorders of variable body fat loss associated with potentially serious metabolic complications. Familial partial lipodystrophy (FPLD) is mostly inherited as an autosomal dominant disorder. Renal involvement has only been reported in a limited number of cases of FPLD. Herein, we present a rare case of proteinuria associated with type 4 FPLD, which is characterized by a heterozygous mutation in PLIN1 and has not been reported with renal involvement until now. CASE PRESENTATION: A 15-year-old girl presented with insulin resistance, hypertriglyceridaemia, hepatic steatosis and proteinuria. Her glucose and glycated haemoglobin levels were within normal laboratory reference ranges. A novel heterozygous frameshift mutation in PLIN1 was identified in the patient and her mother. The kidney biopsy showed glomerular enlargement and focal segmental glomerulosclerosis under light microscopy; the electron microscopy results fit with segmental thickening of the glomerular basement membrane. Treatment with an angiotensin-converting enzyme inhibitor (ACEI) decreased 24-h protein excretion. CONCLUSIONS: We report the first case of proteinuria and renal biopsy in a patient with FPLD4. Gene analysis demonstrated a novel heterozygous frameshift mutation in PLIN1 in this patient and her mother. Treatment with ACEI proved to be beneficial. BioMed Central 2018-05-10 /pmc/articles/PMC5946515/ /pubmed/29747582 http://dx.doi.org/10.1186/s12882-018-0913-6 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Chen, Ru-Xuan Zhang, Lei Ye, Wei Wen, Yu-Bing Si, Nuo Li, Hang Li, Ming-Xi Li, Xue-Mei Zheng, Ke The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature |
title | The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature |
title_full | The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature |
title_fullStr | The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature |
title_full_unstemmed | The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature |
title_short | The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature |
title_sort | renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946515/ https://www.ncbi.nlm.nih.gov/pubmed/29747582 http://dx.doi.org/10.1186/s12882-018-0913-6 |
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