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Autosomal dominant tubulointerstitial kidney disease (ADTKD)

Le nefropatie tubulo-interstiziali a trasmissione autosomica dominante (ADTKD)

Abstract

Autosomal Dominant Tubulointerstitial Kidney Diseases (ADTKD) are a group of autosomal dominant hereditary nephropathies which share a rather aspecific pathological picture of interstitial fibrosis and tubular atrophy (IFTA) and a slowly progressing tubulointerstitial clinical profile: end-stage renal disease (ESRD) generally occurs between 30 and 50 years. Four types of ADTKD have been described so far, each showing some peculiarities: hepatocyte nuclear factor-1 β (HNF1β) ADTKD, in which ADTKD can be associated with renal cysts and a wide spectrum of congenital abnormalities of kidney and urinary tract (CAKUT) and extra-renal manifestations (diabetes, liver enzyme alterations, genital malformations), uromodulin (UMOD) ADTKD, characterised by early onset of hyperuricemia and gout, mucin-1 (MUC-1) ADTKD, a recently discovered form which appears to be an isolated tubulointerstitial nephropathy, and renin (REN) ADTKD, which appears in childhood and is characterised by anemia and mild signs of hyporeninism. A better awareness is needed in order to perform genetic analysis whenever clinical setting is compatible with this nephropathy. A timely diagnosis can have an important impact on both the patient and his family members in terms of therapy and prognosis, also at the prospect of renal transplant.

G Tec Nefrol Dial 2017; 29(4): 247 - 252

Article Type: REVIEW

Article Subject: AREA NEFROLOGICA

DOI:10.5301/GTND.2017.17391

Authors

Marco Quaglia, Michele Battista, Guido Merlotti, Martina Mazzariol, Vincenzo Cantaluppi

Article History

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Authors

  • Quaglia, Marco [PubMed] [Google Scholar]
    S.C.D.U. di Nefrologia e Trapianto, A.O.U. “Maggiore della Carità” di Novara, Novara and Dipartimento di Medicina Traslazionale, Università del Piemonte Orientale, Novara
  • Battista, Michele [PubMed] [Google Scholar]
    S.C.D.U. di Nefrologia e Trapianto, A.O.U. “Maggiore della Carità” di Novara, Novara and Dipartimento di Medicina Traslazionale, Università del Piemonte Orientale, Novara
  • Merlotti, Guido [PubMed] [Google Scholar]
    S.C.D.U. di Nefrologia e Trapianto, A.O.U. “Maggiore della Carità” di Novara, Novara and Dipartimento di Medicina Traslazionale, Università del Piemonte Orientale, Novara
  • Mazzariol, Martina [PubMed] [Google Scholar]
    S.C.D.U. di Nefrologia e Trapianto, A.O.U. “Maggiore della Carità” di Novara, Novara and Dipartimento di Medicina Traslazionale, Università del Piemonte Orientale, Novara
  • Cantaluppi, Vincenzo [PubMed] [Google Scholar]
    S.C.D.U. di Nefrologia e Trapianto, A.O.U. “Maggiore della Carità” di Novara, Novara and Dipartimento di Medicina Traslazionale, Università del Piemonte Orientale, Novara

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