AI Article Synopsis
- * NF1 shows complete genetic penetrance but has varied clinical presentations, with few reports of glomerular diseases like nephrotic syndrome in patients, particularly children.
- * This text discusses a specific case of NF1 with nephrotic syndrome, emphasizing the need for thorough evaluations in NF1 patients due to the complexity of their symptoms.
Article Abstract
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder that caused by NF1 mutations. NF1 gene encodes neurofibromin (a GTPase-activating protein) and plays a regulatory role in many signalling pathway such as the Ras/MAPK pathway, which is important for regulating cell growth, proliferation and neural development. Therefore, NF1 gene mutations causes the excessive activation of signalling pathways and uncontrolled cell growth. NF1 exhibits complete genetic penetrance and clinical heterogeneity. Glomerular disease has rarely been reported in patients with NF1, especially in children. Currently, the relationship between NF1 and nephrotic syndrome is unclear. Here, we present a case of NF1 with nephrotic syndrome and further explore the association between NF1 and glomerular diseases. It also reminds clinicians that NF1 has complex and highly variable clinical manifestations and that a comprehensive workup is essential for patients.
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| http://dx.doi.org/10.1111/nep.14393 | DOI Listing |
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