BMC nephrology · 2016
Glomerulopathy in patients with distal duplication of chromosome 6p.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Jankauskienė Augustina, Koczkowska Magdalena, Bjerre Anna, Bernaciak Joanna, Schaefer Franz, Lipska-Ziętkiewicz Beata S
Аннотация
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.
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.
Предметные рубрики MeSH
Abnormalities, MultipleAdolescentAgenesis of Corpus CallosumChromosomes, Human, Pair 6CraniosynostosesFemaleGlomerulosclerosis, Focal SegmentalHearing Loss, BilateralHumansHydrocephalusKidney Failure, ChronicKidney TransplantationMicrophthalmosMicrostomiaMuscle HypotoniaPulmonary Subvalvular StenosisRibsSynostosisTrisomy