Attualità in nefrologia pediatrica: le conoscenze di rilievo per il nefrologo dell’adulto

Autori

  • Alberto Edefonti UOC Nefrologia, Dialisi e Trapianto Pediatrico, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milano - Italy
  • Antonio Vergori UOC Pediatria, Ospedale Maggiore di Lodi, Lodi - Italy
  • Giovanni Montini Dipartimento di Scienze Cliniche e di Comunità, Università degli Studi di Milano, Milano - Italy
  • Francesco Emma Dipartimento di Pediatrie Specialistiche - UOC di Nefrologia e Dialisi, Ospedale Pediatrico Bambino Gesù - IRCCS, Roma - Italy

DOI:

https://doi.org/10.33393/gcnd.2021.2248

Parole chiave:

Pediatric guidelines, Pediatric kidney disease, Precision medicine, Slow-medicine

Abstract

Examples of innovative research in pediatric nephrology include: a) the typically pediatric field of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT), which has benefited from the discovery of numerous gene mutations responsible for the various malformations and the demonstration of the congenital origin of most of the renal damage, resulting in a decrease of invasive imaging, antibiotic prophylaxis and surgery;

b) the approach to glomerular diseases that appear in childhood, like idiopathic nephrotic syndrome (INS), IgA nephropathy (IgAN) and C3 glomerulopathies (C3G).

B and T lymphocyte disregulations and molecular podocyte alterations of immunological and genetic origin have been described in INS as main determinants of proteinuria. In IgAN, the discovery of an abnormal IgA glycosilation in the mucosal B cells has driven to new trials with Budesonide and Sparsentan and to innovative therapies, like atacicept. A new classification of C3G has been proposed after the description of genetic mutations of factors inhibiting activation of the alternative complement pathway, and monoclonal anti-C5 antibody Eculizumab has consequently entered the therapeutic armamentarium;

c) the initial attempts at gene therapy, with promising results obtained in Alport syndrome, nephropathic cystinosis and Dent syndrome.

Moreover, a clear example of precision medicine is represented by the refinement of the dosage of Eculizumab in the treatment of atypical HUS, while slow-medicine recommendations exist for common clinical conditions, like urinary tract infections, microscopic hematuria and proteinuria.

 

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Pubblicato

2021-05-12

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1.
Edefonti A, Vergori A, Montini G, Emma F. Attualità in nefrologia pediatrica: le conoscenze di rilievo per il nefrologo dell’adulto. G Clin Nefrol Dial [Internet]. 12 maggio 2021 [citato 20 settembre 2021];33:67-76. Available at: https://journals.aboutscience.eu/index.php/gcnd/article/view/2248

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