Le nefropatie tubulo-interstiziali a trasmissione autosomica dominante (ADTKD)
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
Marco Quaglia, Michele Battista, Guido Merlotti, Martina Mazzariol, Vincenzo Cantaluppi
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