Iranian journal of kidney diseases · 2025
Genetically Confirmed Hyperoxaluria in Iranian Children- A Multicenter Survey.
СтатьяМногоцентровое исследованиеНазвание 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.
Hooman Nakysa, Maleknejad Mahmood, Basiratnia Mitra, Mojbafan Marzieh, Gheissari Alaleh, Askarian Fahimeh, Naghshizadian Rama, Ghane Sharbaf Fatemeh, Abbasi Arash, Ekhlasi Nahideh, Esfandiar Nasrin, Talaeepur Somaye, Malakoutian Tahereh, Seyedzadeh Abolhassan, Abbasi Larki Rozina
Аннотация
INTRODUCTION: Primary hyperoxaluria (PH) is a rare autosomal recessive disorder characterized by a heterogeneous presentation that leads to kidney failure and involvement of other organs. The aim of this study was to determine the number of cases with suspected PH in Iran that have had a genetically verified diagnosis.
METHODS: A survey distributed among members of Iranian society of pediatric nephrology (IranSPN) to collect overall data on hyperoxaluria (HOX) in their centers, as well as those who performed whole exome sequencing (WES) or sanger sequencing genetic study. Data is presented as frequency and number blocks.
RESULTS: Nineteen out of 130 members filled out the questionnaires. About two-thirds of the responders were suspected to have HOX in the presence of recurrent multiple kidney stones. PH was genetically confirmed in 80 children above 10 years. Alanine-Glyoxylate Aminotransferase (AGXT) was the most frequent reported genetic abnormailtiy. The majority of their patients required kidney replacement therapy. Combined or sequential liver- kidney transplantation was less frequent. Conservative treatment was the only therapy applied to all children prior to end-stage kidney disease.
CONCLUSION: This simple survey revealed that definitive diagnosis of PH occurs at older age accompanied with higher rate of kidney transplantation.
METHODS: A survey distributed among members of Iranian society of pediatric nephrology (IranSPN) to collect overall data on hyperoxaluria (HOX) in their centers, as well as those who performed whole exome sequencing (WES) or sanger sequencing genetic study. Data is presented as frequency and number blocks.
RESULTS: Nineteen out of 130 members filled out the questionnaires. About two-thirds of the responders were suspected to have HOX in the presence of recurrent multiple kidney stones. PH was genetically confirmed in 80 children above 10 years. Alanine-Glyoxylate Aminotransferase (AGXT) was the most frequent reported genetic abnormailtiy. The majority of their patients required kidney replacement therapy. Combined or sequential liver- kidney transplantation was less frequent. Conservative treatment was the only therapy applied to all children prior to end-stage kidney disease.
CONCLUSION: This simple survey revealed that definitive diagnosis of PH occurs at older age accompanied with higher rate of kidney transplantation.