In: BMC Nephrology, 17 (2016), Nr. 32. S. 1-5. ISSN 1471-2369
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Abstract
Background: 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. Case presentation: 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. Conclusion: 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.
Dokumententyp: | Artikel |
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Titel der Zeitschrift: | BMC Nephrology |
Band: | 17 |
Nummer: | 32 |
Verlag: | BioMed Central |
Ort der Veröffentlichung: | London |
Erstellungsdatum: | 08 Apr. 2016 11:22 |
Erscheinungsjahr: | 2016 |
ISSN: | 1471-2369 |
Seitenbereich: | S. 1-5 |
Institute/Einrichtungen: | Medizinische Fakultät Heidelberg und Uniklinikum > Universitätskinderklinik |
DDC-Sachgruppe: | 610 Medizin |