Marlais Matko, Mekahli Djalila
Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.
UCL Great Ormond Street Institute for Child Health, University College London, London, UK.
Pediatr Nephrol. 2025 Jun;40(6):1871-1877. doi: 10.1007/s00467-024-06642-9. Epub 2025 Jan 15.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder which can have manifestations in the kidneys, along with other organ systems. Children with TSC may develop kidney lesions at any point during childhood, and typically these are angiomyolipomata (AML) and/or kidney cysts. Children may also have hypertension associated with TSC-associated kidney disease, and rarely reduced kidney function. New guidelines for the management of TSC-associated kidney disease in children and adults were published in 2024. This educational review summarises the relevant clinical aspects of these guidelines for paediatric nephrologists through a series of four clinical cases. These cases cover management of hypertension, frequency of follow-up and frequency of kidney imaging. Difficult clinical scenarios are reviewed, such as the management of TSC2-PKD1 contiguous gene syndrome and the management of large AMLs in children with TSC.
结节性硬化症（TSC）是一种常染色体显性疾病，可在肾脏以及其他器官系统出现症状。患有TSC的儿童在童年时期的任何时候都可能出现肾脏病变，通常这些病变为肾血管平滑肌脂肪瘤（AML）和/或肾囊肿。儿童也可能患有与TSC相关肾病有关的高血压，很少出现肾功能减退。2024年发布了儿童和成人TSC相关肾病管理的新指南。本教育综述通过一系列四个临床病例，为儿科肾病学家总结了这些指南的相关临床要点。这些病例涵盖高血压的管理、随访频率和肾脏成像频率。还对复杂的临床情况进行了综述，如TSC2-PKD1连续基因综合征的管理以及TSC患儿大AML的管理。
