Title |
Glomerulopathy in patients with distal duplication of chromosome 6p
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Published in |
BMC Nephrology, March 2016
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DOI | 10.1186/s12882-016-0246-2 |
Pubmed ID | |
Authors |
Augustina Jankauskienė, Magdalena Koczkowska, Anna Bjerre, Joanna Bernaciak, Franz Schaefer, Beata S. Lipska-Ziętkiewicz |
Abstract |
Duplication of the distal part of chromosome 6p is a rare genetic syndrome. Renal involvement has been reported in the majority of patients, including a wide range of congenital abnormalities of kidney and urinary tract and, occasionally, a proteinuric glomerulopathy. Here, we report a 13-year-old girl with 6p25.3p22.1 duplication who presented with proteinuria in infancy, was later diagnosed as focal segmental glomerulosclerosis, progressed to end-stage renal disease and was successfully transplanted. A systematic literature review suggests that 15-20 % of individuals with distal 6p duplication develop progressive proteinuric glomerulopathy. Monitoring of kidney function should be recommended in all cases. |
X Demographics
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Unknown | 2 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 15 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Master | 5 | 33% |
Researcher | 4 | 27% |
Student > Doctoral Student | 1 | 7% |
Librarian | 1 | 7% |
Student > Bachelor | 1 | 7% |
Other | 1 | 7% |
Unknown | 2 | 13% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 10 | 67% |
Biochemistry, Genetics and Molecular Biology | 2 | 13% |
Nursing and Health Professions | 1 | 7% |
Unknown | 2 | 13% |