Renal failure · 2025
Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novel CLCN5 and OCRL variants.
СтатьяНазвание 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.
Jiang Xinyi, Lin Hongzhou, Zhu Qifan, Chen Huihui, Huang Yutong, Huang Xiu-Feng, Wang Dexuan
Аннотация
OBJECTIVE: This study aims to elucidate the genetic and phenotypic characteristics of pediatric patients with potential Dent disease (DD).
METHODS: High-throughput sequencing was conducted on 11 pediatric patients with potential cases of DD. We also analyzed clinical phenotype and treatment regimens.
RESULT: Variants in CLCN5 and OCRL were identified in nine patients, including three novel variants. The predominant clinical manifestations among these patients with a definitive diagnosis of DD included low molecular weight proteinuria (LMWP) (100%), hypercalciuria (66.7%), abnormal renal function (55.6%), nephrocalcinosis (44.4%), and hypophosphatemia (44.4%). Patients with CLCN5 or OCRL variants exhibited significantly elevated levels of both β2-microglobulin and α1-microglobulin, exceeding the normal threshold by more than tenfold. In contrast, the potential cases of DD without identified genetic mutations showed a moderate increase in β2-microglobulin (5-10 times the normal level), while α1-microglobulin levels remained below this range. Seven DD patients were treated with nonsteroidal angiotensin-converting enzyme inhibitors. By the end of this study, five DD patients were diagnosed with stage 2 chronic kidney disease (CKD2), while four were classified as having CKD1.
CONCLUSION: This study provides insight into the clinical and genetic profiles of DD patients. Notably, integrating genetic analysis with the detection of markedly elevated levels of LMWP, particularly α1-microglobulin,can substantially reduce the misdiagnosis of this disease.
METHODS: High-throughput sequencing was conducted on 11 pediatric patients with potential cases of DD. We also analyzed clinical phenotype and treatment regimens.
RESULT: Variants in CLCN5 and OCRL were identified in nine patients, including three novel variants. The predominant clinical manifestations among these patients with a definitive diagnosis of DD included low molecular weight proteinuria (LMWP) (100%), hypercalciuria (66.7%), abnormal renal function (55.6%), nephrocalcinosis (44.4%), and hypophosphatemia (44.4%). Patients with CLCN5 or OCRL variants exhibited significantly elevated levels of both β2-microglobulin and α1-microglobulin, exceeding the normal threshold by more than tenfold. In contrast, the potential cases of DD without identified genetic mutations showed a moderate increase in β2-microglobulin (5-10 times the normal level), while α1-microglobulin levels remained below this range. Seven DD patients were treated with nonsteroidal angiotensin-converting enzyme inhibitors. By the end of this study, five DD patients were diagnosed with stage 2 chronic kidney disease (CKD2), while four were classified as having CKD1.
CONCLUSION: This study provides insight into the clinical and genetic profiles of DD patients. Notably, integrating genetic analysis with the detection of markedly elevated levels of LMWP, particularly α1-microglobulin,can substantially reduce the misdiagnosis of this disease.