Huang Limin, Wang Yanfei, Zhang Yingying, Fu Haidong, Mao Jianhua
Department of Nephrology, Children's Hospital, National clinical research center for child health, Zhejiang University School of Medicine, 3333 Binsheng Road, Hangzhou, China.
Children's Hospital of Fudan University, Shanghai, China.
Cell Commun Signal. 2025 Jun 18;23(1):289. doi: 10.1186/s12964-025-02307-8.
Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive genetic disorder that is underrecognized. The phenotype is heterogeneous, but it is now widely accepted that early-onset nephrotic syndrome (SRNS) and microcephaly with brain malformation are characteristic features of Galloway-Mowat syndrome. Although the five subunits that encode the KEOPS complex, OSGEP/TP53RK/TPRKB/LAGE3/GON7, are known to cause Galloway-Mowat syndrome, the mutation of the WDR73, WDR4, NUP107, NUP133, and PRDM15 genes can lead to Galloway-Mowat syndrome, which makes the diagnosis more challenging. This review outlines current knowledge regarding Galloway-Mowat syndrome from another perspective. Starting from the history of Galloway-Mowat syndrome and reviewing the clinical details of patients with and without genetic traits, we discuss the phenotypic and genetic heterogeneity of the disease. We pay particular attention to all confounding clinical signs and symptoms that may lead to misdiagnosis. Indeed, some patients with Galloway-Mowat syndrome have a clinical condition of nephrotic range proteinuria, with or without hematuria, such as glomerular disease or chronic kidney disease of unknown origin. Although glomerular injury is frequently documented in biopsies of patients with Galloway-Mowat syndrome, there is currently no reliable evidence that renal biopsy has diagnostic or prognostic value. We reviewed published histopathological reports of renal tubule and glomerular injury in these patients and discussed the current knowledge on the role of genes that contribute to the onset of Galloway-Mowat syndrome in glomerular function.
加洛韦-莫瓦特综合征（GAMOS）是一种罕见的常染色体隐性遗传病，目前尚未得到充分认识。其表型具有异质性，但现在人们普遍认为，早发性肾病综合征（SRNS）和伴有脑畸形的小头畸形是加洛韦-莫瓦特综合征的特征性表现。虽然已知编码KEOPS复合体的五个亚基，即OSGEP/TP53RK/TPRKB/LAGE3/GON7，会导致加洛韦-莫瓦特综合征，但WDR73、WDR4、NUP107、NUP133和PRDM15基因的突变也可导致加洛韦-莫瓦特综合征，这使得诊断更具挑战性。本综述从另一个角度概述了关于加洛韦-莫瓦特综合征的现有知识。从加洛韦-莫瓦特综合征的病史开始，回顾有或无遗传特征患者的临床细节，我们讨论了该疾病的表型和遗传异质性。我们特别关注所有可能导致误诊的混淆临床体征和症状。事实上，一些加洛韦-莫瓦特综合征患者有肾病范围蛋白尿的临床情况，伴有或不伴有血尿，如肾小球疾病或不明原因的慢性肾脏病。虽然在加洛韦-莫瓦特综合征患者的活检中经常记录到肾小球损伤，但目前没有可靠证据表明肾活检具有诊断或预后价值。我们回顾了这些患者肾小管和肾小球损伤的已发表组织病理学报告，并讨论了目前关于导致加洛韦-莫瓦特综合征发病的基因在肾小球功能中作用的知识。
