BACKGROUND: The prevention and slowing of chronic kidney disease still represent major challenges in nephrology. To this end, a major contribution may come from the extensive knowledge on the molecular pathways involved in the pathogenesis of rare kidney diseases, since it is now possible to shed light on several aspects of these pathologies thanks to the introduction of new technologies, including next-generation sequencing. SUMMARY: In steroid-resistant nephrotic patients, a genetic background has been demonstrated in both children and adults; individualized mutations have been correlated with glomerular filtration barrier alterations. In addition, studies on genetic tubulopathies expressing hypertensive phenotypes can provide useful information for a correct diagnostic and therapeutic approach in patients with essential hypertension and a poor responsiveness to therapy. KEY MESSAGE: This review deals with the pathogenesis of rare glomerular diseases and tubulopathies associated with hypertension, highlighting the importance of the study of rare diseases to better understand the molecular basis of more common and complex disorders leading to end-stage renal disease.
BACKGROUND: The prevention and slowing of chronic kidney disease still represent major challenges in nephrology. To this end, a major contribution may come from the extensive knowledge on the molecular pathways involved in the pathogenesis of rare kidney diseases, since it is now possible to shed light on several aspects of these pathologies thanks to the introduction of new technologies, including next-generation sequencing. SUMMARY: In steroid-resistant nephrotic patients, a genetic background has been demonstrated in both children and adults; individualized mutations have been correlated with glomerular filtration barrier alterations. In addition, studies on genetic tubulopathies expressing hypertensive phenotypes can provide useful information for a correct diagnostic and therapeutic approach in patients with essential hypertension and a poor responsiveness to therapy. KEY MESSAGE: This review deals with the pathogenesis of rare glomerular diseases and tubulopathies associated with hypertension, highlighting the importance of the study of rare diseases to better understand the molecular basis of more common and complex disorders leading to end-stage renal disease.
Authors: Mariadelina Simeoni; Ramona Nicotera; Maria Colao; Maria Lucia Citraro; Elena Pelagi; Annamaria Cerantonio; Nicola Comi; Giuseppe Coppolino; Giorgio Fuiano Journal: Int Urol Nephrol Date: 2015-10-05 Impact factor: 2.370
Authors: Marta Greco; Daniela Patrizia Foti; Antonio Aversa; Giorgio Fuiano; Antonio Brunetti; Mariadelina Simeoni Journal: J Clin Med Date: 2020-09-13 Impact factor: 4.241