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.

Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases

“…Inherited kidney diseases (IKDs) are a group of kidney diseases characterized by abnormal kidney structure or function caused by genetic factors which present substantial clinical heterogeneity in clinical presentation, age of onset, severity, and progression of symptoms, accounting for at least 10%-15% of cases of kidney replacement therapy (Zhang et al, 2021;Torra et al, 2021). So far, there have been more than 150 known IKDs which can be divided into two categories of inherited renal structural abnormality and inherited renal dysfunction (Devuyst et al, 2014;Cunha et al, 2020).…”

Itinerário Terapêutico Na Doença Rara E a Importância Da Enfermagem Nesse Processo

“…Os sinais e sintomas clínicos podem ser muito heterogêneos e sutis, o que dificulta/retarda o diagnóstico. (11) Esse fato pode ser percebido na pesquisa com os participantes deste estudo, onde os indivíduos acometidos com a DF demoraram entre 2 e 43 anos para terem o diagnóstico, além de serem afetados pela doença de diferentes formas.…”

Recurrence of rare disease after kidney transplant

“…At the same time, many RDs could be an essential part of the clinical picture of patients with established end-stage renal disease (ESRD) or rarely diagnosed ones after kidney transplants. According to the main studies, up to 30% of patients with extended ESRD do not have a defined diagnosis of their primary nephropathy (2). From January 2005 to December 2016, a significant number of kidney transplanted patients (25%) have documented RDs [classified according to the Orphanet rare disease nomenclature (ORPHA code)] as underlying CKD.…”