China
Africa
Explore chapters and articles related to this topic
Renal and urinary tract diseases
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Medullary cystic kidney disease (MCKD) is an autosomal dominant disorder of usually adult onset that is caused largely (not exclusively) by mutation in one of two genes, either MUC1 or UMOD. The kidneys are small and sonographically echogenic. Despite the emphasis on cysts, they appear to contribute relatively little to the functional renal abnormality.
Cystic disease of the kidneys
Published in Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven, Succeeding in Paediatric Surgery Examinations, 2017
Cystic disease of the kidneys has multiple aetiologies. The cysts are either dilated renal tubules or diverticulum-like structures that arise from renal tubules. They may be connected to the rest of the nephron or they may have lost their continuity. Renal cystic disease can be bilateral and diffuse, as seen in ARPKD or localised to one particular region of the kidneys, as in medullary sponge kidney. It is also seen unilaterally in MCDKs and simple cysts. The classification of renal cystic disease is difficult. The ideal classification would link morphological features, clinical importance and pathogenesis, while providing a basis for therapeutic intervention. One such system is as follows: developmental – multicystic dysplastic kidneygenetic – autosomal recessive polycystic kidneys (ARPKD), autosomal dominant PKD, juvenile nephronophthisis, medullary cystic kidney disease, glomerulocystic kidney diseasecysts associated with systemic disease – tuberous sclerosis, von Hippel–Lindau’s syndromeacquired – simple cysts and acquired cystic renal diseasemalignant – cystic Wilm’s tumour and cystic renal cell carcinoma.
Urinary proteomics combined with home blood pressure telemonitoring for health care reform trial: rational and protocol
Published in Blood Pressure, 2021
Lutgarde Thijs, Kei Asayama, Gladys E. Maestre, Tine W. Hansen, Luk Buyse, Dong-Mei Wei, Jesus D. Melgarejo, Jana Brguljan-Hitij, Hao-Min Cheng, Fabio de Souza, Natasza Gilis-Malinowska, Kalina Kawecka-Jaszcz, Carina Mels, Gontse Mokwatsi, Elisabeth S. Muxfeldt, Krzysztof Narkiewicz, Augustine N. Odili, Marek Rajzer, Aletta E. Schutte, Katarzyna Stolarz-Skrzypek, Yi-Wen Tsai, Thomas Vanassche, Raymond Vanholder, Zhen-Yu Zhang, Peter Verhamme, Ruan Kruger, Harald Mischak, Jan A. Staessen
In stage-3 CKD [56,72], there is upregulation of mucin-1 subunit-α, a protein shed by the renal tubular epithelium [72]. Mucin-1 is a high-molecular weight (400 kDa) membrane-tethered glycoprotein [73], which normal kidneys express in the thick segment of Henle’s loop and in the distal tubules and collecting ducts. The main function of mucin-1 is to shield cell surfaces by maintenance of a luminal epithelial mucobarrier [74]. Further evidence supporting mucin-1 as a marker of renal dysfunction originated from genetic studies. A frameshift mutation in the MUC1 gene, located on chromosome 1 (1q21) [75] creates a new peptide that accumulates inside the MUC1 expressing renal tubular cells and causes autosomal dominant medullary cystic kidney disease type-1.
A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review
Published in Renal Failure, 2018
Ziqiang Lin, Juan Yang, Hong Liu, Dan Cai, Zhenmei An, Yerong Yu, Tao Chen
Autosomal dominant tubulointerstitial kidney disease caused by UMOD pathogenic variants (ADTKD-UMOD) was previously known as familial juvenile hyperuricemic nephropathy type 1 (FJHN1), medullary cystic kidney disease type 2 (MCKD2) and UMOD-associated kidney disease [1,2]. This disease was characterized by early-onset hyperuricemia, gout and hypertension, reduced fractional renal urate excretion and progressive interstitial nephropathy [3]. Mean age of progression to end-stage renal disease (ESRD) was 56 years old [4]. Heterogeneous mutations in the UMOD gene located on chromosome 16p12.3–p13.11 [5,6].
Temporal retinal thinning and the diagnosis of Alport syndrome and Thin basement membrane nephropathy
Published in Ophthalmic Genetics, 2018
Yan Chen, Deb Colville, Francesco Ierino, Andrew Symons, Judy Savige
Fourteen subjects with other renal diseases and an average age of 53 ± 13 (median 54, range 26–72) years were also examined. They included 4 (36%) with focal and segmental glomerulosclerosis, 4 (29%) with dense deposit disease, 4 (29%) with IgA nephropathy, and one each with Goodpasture syndrome and medullary cystic kidney disease.