Rare inherited kidney diseases: an evolving field in Nephrology

Abstract There are more than 150 different rare genetic kidney diseases. They can be classified according to diagnostic findings as (i) disorders of growth and structure, (ii) glomerular diseases, (iii) tubular, and (iv) metabolic diseases. In recent years, there has been a shift of paradigm in this field. Molecular testing has become more accessible, our understanding of the underlying pathophysiologic mechanisms of these diseases has evolved, and new therapeutic strategies have become more available. Therefore, the role of nephrologists has progressively shifted from a mere spectator to an active player, part of a multidisciplinary team in the diagnosis and treatment of these disorders. This article provides an overview of the recent advances in rare hereditary kidney disorders by discussing the genetic aspects, clinical manifestations, diagnostic, and therapeutic approaches of some of these disorders, named familial focal and segmental glomerulosclerosis, tuberous sclerosis complex, Fabry nephropathy, and MYH-9 related disorder.

摘要 目前已发现超过150种不同的罕见遗传性肾脏疾病，可根据诊断结果分为四类：(i)生长与结构异常类疾病、(ii)肾小球疾病、(iii)肾小管疾病以及(iv)代谢性疾病。近年来，该领域的研究范式发生了转变：分子检测的可及性逐步提高，学界对这类疾病潜在病理生理机制的认知不断深化，新型治疗策略也日益丰富。因此，肾脏科医师的角色也逐渐从单纯的旁观者转变为积极参与者，成为这类疾病诊疗多学科团队的组成部分。本文通过对家族性局灶节段性肾小球硬化症（familial focal and segmental glomerulosclerosis）、结节性硬化症复合物（tuberous sclerosis complex）、法布里肾病（Fabry nephropathy）以及MYH-9相关疾病（MYH-9 related disorder）这几类罕见遗传性肾脏疾病的遗传学特征、临床表现、诊断及治疗手段进行探讨，综述该领域的最新研究进展。