Genetic kidney diseases as an underrecognized cause of chronic kidney disease : the key role of international registry reports
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau)
Furlano, Monica (Institut d'Investigació Biomèdica Sant Pau)
Ortiz, Alberto (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz)
Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau)
Universitat Autònoma de Barcelona

Data:	2021
Resum:	Inherited kidney diseases (IKDs) are among the leading causes of early-onset chronic kidney disease (CKD) and are responsible for at least 10-15% of cases of kidney replacement therapy (KRT) in adults. Paediatric nephrologists are very aware of the high prevalence of IKDs among their patients, but this is not the case for adult nephrologists. Recent publications have demonstrated that monogenic diseases account for a significant percentage of adult cases of CKD. A substantial number of these patients have received a non-specific/incorrect diagnosis or a diagnosis of CKD of unknown aetiology, which precludes correct treatment, follow-up and genetic counselling. There are a number of reasons why genetic kidney diseases are difficult to diagnose in adulthood: (i) adult nephrologists, in general, are not knowledgeable about IKDs; (ii) existence of atypical phenotypes; (iii) genetic testing is not universally available; (iv) family history is not always available or may be negative; (v) lack of knowledge of various genotype-phenotype relationships and (vi) conflicting interpretation of the pathogenicity of many sequence variants. Registries can contribute to visualize the burden of IKDs by regularly grouping all IKDs in their annual reports, as is done for glomerulonephritis or interstitial diseases, rather than reporting only cystic disease and hiding other IKDs under labels such as 'miscellaneous' or 'other'. Any effort to reduce the percentage of patients needing KRT with a diagnosis of 'nephropathy of unknown etiology' or an unspecific/incorrect diagnosis should be encouraged as a step towards precision nephrology. Genetic testing may be of value in this context but should not be used indiscriminately, but rather on the basis of a deep knowledge of IKDs.
Ajuts:	Instituto de Salud Carlos III RETIC REDINREN RD16/0009 Instituto de Salud Carlos III FIS FEDER FUNDS PI15/01824 Instituto de Salud Carlos III FIS FEDER FUNDS PI16/01998 Instituto de Salud Carlos III FIS FEDER FUNDS PI18/00362 Instituto de Salud Carlos III FIS FEDER FUNDS PI19/01633 Instituto de Salud Carlos III FIS FEDER FUNDS PI19/00815
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article de revisió ; recerca ; Versió publicada
Matèria:	Chronic kidney disease ; Familial ; Genetic ; Genetic testing ; Inherited kidney disease ; Registries
Publicat a:	Clinical Kidney Journal, Vol. 14 Núm. 8 (january 2021) , p. 1879-1885, ISSN 2048-8513

DOI: 10.1093/ckj/sfab056
PMID: 34345410

7 p, 2.3 MB

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