Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a recently defined entity
that includes rare kidney diseases characterized by tubular damage and interstitial fibrosis …

Uromodulin (also known as Tamm-Horsfall protein) is exclusively produced in the kidney
and is the most abundant protein in normal urine. The function of uromodulin remains …

Uromodulin, a protein exclusively produced by the kidney, is the most abundant urinary
protein in physiological conditions. Already described several decades ago, uromodulin has …

Uromodulin (Tamm–Horsfall protein) is the most abundant protein excreted in the urine
under physiological conditions. It is exclusively produced in the kidney and secreted into the …

Given the genomic uniqueness, a local data set is most desired for Indians, who are
underrepresented in existing public databases. We hypothesize patients with rare …

The recent discovery of mutations in the uromodulin gene (UMOD) in patients with medullary
cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy (FJHN) …

Autosomal dominant hyperuricemia, gout, renal cysts, and progressive renal insufficiency
are hallmarks of a disease complex comprising familial juvenile hyperuricemic nephropathy …

Uromodulin, also known as Tamm-Horsfall protein, represents the predominant urinary
protein in healthy individuals. Over the years, studies have revealed compelling …

More than 50 years ago, Tamm and Horsfall isolated a mucoprotein from the human urine,
and showed that the protein was able to interact and inhibit viral haemagglutination [1, 2]. Of …

Rationale & Objective Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a
rare underdiagnosed cause of end-stage renal disease (ESRD). ADTKD is caused by …