• MeSH
• lidé MeSH
• mukoproteiny * MeSH
• uromodulin * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• komentáře MeSH
• Research Support, N.I.H., Extramural MeSH
• úvodníky MeSH

Mucin-1 kidney disease, previously described as medullary cystic kidney disease type 1 (MCKD1, OMIM 174000), is an autosomal dominant tubulointerstitial kidney disease recently shown to be caused by a single-base insertion within the variable number tandem repeat region of the MUC1 gene. Because of variable age of disease onset and often subtle signs and symptoms, clinical diagnosis of mucin-1 kidney disease and differentiation from other forms of hereditary kidney disease have been difficult. The causal insertion resides in a variable number tandem repeat region with high GC content, which has made detection by standard next-generation sequencing impossible to date. The inherently difficult nature of this mutation required an alternative method for routine detection and clinical diagnosis of the disease. We therefore developed and validated a mass spectrometry-based probe extension assay with a series of internal controls to detect the insertion event using 24 previously characterized positive samples from patients with mucin-1 kidney disease and 24 control samples known to be wild type for the variant. Validation results indicate an accurate and reliable test for clinically establishing the molecular diagnosis of mucin-1 kidney disease with 100% sensitivity and specificity across 275 tests called.

• MeSH
• diagnostické techniky molekulární * MeSH
• genotyp MeSH
• hmotnostní spektrometrie metody   normy   MeSH
• lidé MeSH
• mucin 1 genetika   MeSH
• mutace * MeSH
• polycystické ledviny autozomálně dominantní diagnóza   genetika   MeSH
• průběh práce MeSH
• reprodukovatelnost výsledků MeSH
• senzitivita a specificita MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been proposed for these disorders, including 'Medullary Cystic Kidney Disease (MCKD) type 2', 'Familial Juvenile Hyperuricemic Nephropathy (FJHN)', or 'Uromodulin-Associated Kidney Disease (UAKD)' for UMOD-related diseases and 'MCKD type 1' for the disease caused by MUC1 mutations. The multiplicity of these terms, and the fact that cysts are not pathognomonic, creates confusion. Kidney Disease: Improving Global Outcomes (KDIGO) proposes adoption of a new terminology for this group of diseases using the term 'Autosomal Dominant Tubulointerstitial Kidney Disease' (ADTKD) appended by a gene-based subclassification, and suggests diagnostic criteria. Implementation of these recommendations is anticipated to facilitate recognition and characterization of these monogenic diseases. A better understanding of these rare disorders may be relevant for the tubulointerstitial fibrosis component in many forms of chronic kidney disease.

• MeSH
• dna (nemoc) * klasifikace   diagnóza   genetika   terapie   MeSH
• fenotyp MeSH
• genetická predispozice k nemoci MeSH
• hyperurikemie * klasifikace   diagnóza   genetika   terapie   MeSH
• konsensus MeSH
• lidé MeSH
• mutace MeSH
• mutační analýza DNA MeSH
• nefrologie normy   MeSH
• nemoci ledvin * klasifikace   diagnóza   genetika   terapie   MeSH
• polycystické ledviny autozomálně dominantní * klasifikace   diagnóza   genetika   terapie   MeSH
• prediktivní hodnota testů MeSH
• terminologie jako téma MeSH
• uromodulin klasifikace   nedostatek   genetika   MeSH
• výsledek terapie MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• konsensus - konference MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH
• směrnice pro lékařskou praxi MeSH