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Tuberous Sclerosis Complex Kidney Lesion Pathogenesis: A Developmental Perspective

期刊

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
卷 34, 期 7, 页码 1135-1149

出版社

AMER SOC NEPHROLOGY
DOI: 10.1681/ASN.0000000000000146

关键词

genetic renal disease; cell biology and structure; kidney development; molecular genetics; polycystic kidney disease; stem cell; tuberous sclerosis

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This review explores the question of how TSC kidney lesions arise, integrating findings from clinical studies, human specimens, and genetic animal models. It presents a new model of pathogenesis suggesting that lesions arise from second-hit events during development. This model can serve as a conceptual framework for investigating TSC lesion pathogenesis in various tissues.
The phenotypic diversity of tuberous sclerosis complex (TSC) kidney pathology is enigmatic. Despite a well-established monogenic etiology, an incomplete understanding of lesion pathogenesis persists. In this review, we explore the question: How do TSC kidney lesions arise? We appraise literature findings in the context of mutational timing and cell-of-origin. Through a developmental lens, we integrate the critical results from clinical studies, human specimens, and genetic animal models. We also review novel insights gleaned from emerging organoid and single-cell sequencing technologies. We present a new model of pathogenesis which posits a phenotypic continuum, whereby lesions arise by mutagenesis during development from variably timed second-hit events. This model can serve as a conceptual framework for testing hypotheses of TSC lesion pathogenesis, both in the kidney and in other affected tissues.

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