Abstract：
INTRODUCTION:Medullary cystic kidney disease type 1 (MCKD1; OMIM #174000) is a familial progressive tubule-interstitial nephropathy belonging to the recently defined group of autosomal dominant tubulointerstitial kidney diseases (ADTKD). CASE REPORT:A specific type of cytosine insertion in the extracellular variable number tandem repeat (VNTR) domain of the MUC1 gene causing the disease was tested in a group of 21 families with ADTKD. We identified this type of MUC1 mutation in two families, whose affected members are described in detail in this case report. Affected (ADTKD-MUC1) members developed end-stage renal disease (ESRD) with a higher incidence (p = 0.033) and at a younger age (p = 0.013) than probands with ADTKD but without this type of mutation. All patients with MUC1-associated kidney disease shared a rather unspecific tubule-interstitial laboratory pattern without medullary cysts, leading to ESRD between the age of 33 and 47 years. We were not able to identify any single common extra-renal feature among affected patients, even if they had various comorbidities, which are described in detail. CONCLUSIONS:We identified this type of MUC1 mutation in 9.5 % of families from an ADTKD Italian cohort; larger studies are needed to better define the criteria for genetic testing for this type of mutation.
journal_name
J Nephroljournal_title
Journal of nephrologyauthors
Musetti C,Babu D,Fusco I,Mellone S,Zonta A,Quaglia M,Cantaluppi V,Stratta P,Giordano Mdoi
10.1007/s40620-016-0282-9subject
Has Abstractpub_date
2016-06-01 00:00:00pages
451-455issue
3eissn
1121-8428issn
1724-6059pii
10.1007/s40620-016-0282-9journal_volume
29pub_type
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