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3. Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1

Author

Bleyer, A. J., Kmoch, S., Antignac, C., Robins, V., Kidd, K., Kelsoe, J. R., Hladik, G., Klemmer, P., Knohl, S. J., Scheinman, S. J., Vo, N., Santi, A., Harris, A., Canaday, O., Weller, N., Hulick, P. J., Vogel, K., Rahbari-Oskoui, F. F., Tuazon, J., Constantinou-Deltas, Constantinos D., Somers, D., Megarbane, A., Kimmel, P. L., Sperati, C. J., Orr-Urtreger, A., Ben-Shachar, S., Waugh, D. A., Mcginn, S., Bleyer Jr., A. J., Hodaňová, K., Vyletal, P., Živná, M., Hart, T. C., Hart, P. S., and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]

Subjects
Male, Pathology, glomerulus filtration rate, Time Factors, Epidemiology, urinalysis, medicine.medical_treatment, DNA Mutational Analysis, variable number of tandem repeat, genetic analysis, Critical Care and Intensive Care Medicine, Medullary cystic kidney disease, Kidney, Gastroenterology, Tamm Horsfall glycoprotein, Risk Factors, middle aged, gene mutation, Registries, Aged, 80 and over, adult, article, Age Factors, Middle Aged, Polycystic Kidney, Autosomal Dominant, Pedigree, female, medicine.anatomical_structure, Phenotype, genotyping technique, Nephrology, Mutation (genetic algorithm), Disease Progression, Female, mutational analysis, Adult, medicine.medical_specialty, Adolescent, Risk Assessment, Young Adult, medullary sponge kidney, male, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, human, chromosome 1, Dialysis, Aged, Retrospective Studies, Transplantation, business.industry, Mucin-1, Editorials, Retrospective cohort study, mucin 1, medicine.disease, major clinical study, renin, Mutation, Kidney Failure, Chronic, Gene-Environment Interaction, Age of onset, business, Kidney disease
Abstract

Background and objectives The genetic cause of medullary cystic kidney disease type 1 was recently identified as a cytosine insertion in the variable number of tandem repeat region of MUC1 encoding mucoprotein-1 (MUC1), a protein that is present in skin, breast, and lung tissue, the gastrointestinal tract, and the distal tubules of the kidney. The purpose of this investigationwas to analyze the clinical characteristics of families and individuals with this mutation. Design, setting, participants, & measurements Families with autosomal dominant interstitial kidney diseasewere referred for genetic analysis over a 14-year period. Families without UMOD or REN mutations prospectively underwent genotyping for the presence of the MUC1 mutation. Clinical characteristics were retrospectively evaluated in individuals with the MUC1 mutation and historically affected individuals (persons who were both related to genetically affected individuals in such a way that ensured that they could be genetically affected and had a history of CKD stage IV or kidney failure resulting in death, dialysis, or transplantation). Results Twenty-four families were identified with the MUC1 mutation. Of 186 family members undergoing MUC1 mutational analysis, the mutation was identified in 95 individuals, 91 individuals did not have the mutation, and111 individuals were identified as historically affected. Individuals with the MUC1 mutation suffered from chronic kidney failure with a widely variable age of onset of end stage kidney disease ranging from 16 to.80 years. Urinalyses revealed minimal protein and no blood. Ultrasounds of 35 individuals showed no medullary cysts. There were no clinical manifestations of the MUC1 mutation detected in the breasts, skin, respiratory system, or gastrointestinal tract. ConclusionMUC1 mutation results in progressive chronic kidney failurewith a bland urinary sediment. The age of onset of end stage kidney disease is highly variable, suggesting that gene-gene or gene-environment interactions contribute to phenotypic variability. © 2014 by the American Society of Nephrology. 9 527 535 Cited By :15

Published
2014

4. Risk of End‐Stage Renal Disease in HIV‐Positive Potential Live Kidney Donors

Author

Muzaale, A. D., Althoff, K. N., Sperati, C. J., Abraham, A. G., Kucirka, L. M., Massie, A. B., Kitahata, M. M., Horberg, M. A., Justice, A. C., Fischer, M. J., Silverberg, M. J., Butt, A. A., Boswell, S. L., Rachlis, A. R., Mayor, A. M., Gill, M. J., Eron, J. J., Napravnik, S., Drozd, D. R., Martin, J. N., Bosch, R. J., Durand, C. M., Locke, J. E., Moore, R. D., Lucas, G. M., and Segev, D. L.

Abstract

New federal regulations allow HIV‐positive individuals to be live kidney donors; however, potential candidacy for donation is poorly understood given the increased risk of end‐stage renal disease (ESRD) associated with HIV infection. To better understand this risk, we compared the incidence of ESRDamong 41 968 HIV‐positive participants of North America AIDSCohort Collaboration on Research and Design followed for a median of 5 years with the incidence of ESRDamong comparable HIV‐negative participants of National Health and Nutrition Examination IIIfollowed for a median of 14 years. We used risk associations from multivariable Cox proportional hazards regression to derive cumulative incidence estimates for selected HIV‐positive scenarios (no history of diabetes, hypertension, AIDS, or hepatitis C viruscoinfection) and compared these estimates with those from similarly selected HIV‐negative scenarios. For 40‐year‐old HIV‐positive individuals with health characteristics that were similar to those of age‐matched kidney donors, viral load <400 copies/mL, and CD4+count ≥500 cells/μL, the 9‐year cumulative incidence of ESRDwas higher than that of their HIV‐negative peers, yet still low: 2.5 versus 1.1 per 10 000 among white women, 3.0 versus 1.3 per 10 000 among white men, 13.2 versus 3.6 per 10 000 among black women, and 15.8 versus 4.4 per 10 000 among black men. HIV‐positive individuals with no comorbidities and well‐controlled disease may be considered low‐risk kidney donor candidates. This North American study demonstrates that HIV‐positive individuals with no comorbidities and well‐controlled disease may be considered low‐risk live kidney donor candidates. See Steiner's editorial on page 1701.

Published
2017
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5. Reoxygenation of hypoxic human umbilical vein endothelial cells activates the classic complement pathway.

Author

Collard CD, Väkevä A, Büküsoglu C, Zünd G, Sperati CJ, Colgan SP, and Stahl GL

Subjects
Antigens, CD analysis, Blotting, Western, CD55 Antigens analysis, Complement Inactivator Proteins analysis, Enzyme-Linked Immunosorbent Assay, Flow Cytometry, Humans, Membrane Cofactor Protein, Membrane Glycoproteins analysis, Surface Properties, Complement Activation physiology, Complement C3 analysis, Endothelium, Vascular physiology, Hypoxia physiopathology, Reperfusion Injury physiopathology, Umbilical Veins physiology
Abstract

Background: Ischemia-reperfusion injury leads to the activation and endothelial deposition of complement. We investigated whether exposure of human umbilical vein endothelial cells (HUVECs) to hypoxia and/or reoxygenation activates complement and decreases HUVEC-surface expression of the C3 regulatory proteins CD46 and CD55., Methods and Results: HUVECs were subjected to 0, 12, or 24 hours of hypoxia (O2 = 1%) and then reoxygenated for 3 hours (O2 = 21%) in the presence of 30% human serum. C3 deposition and HUVEC-surface expression of CD46 and CD55 were evaluated by ELISA and flow cytometry. C3 deposition on HUVECs subjected to 12 or 24 hours of hypoxia followed by 3 hours of reoxygenation was significantly greater than normoxic HUVECs. Inhibition of the classic but not the alternative complement pathway during reoxygenation attenuated C3 deposition. Western blot analysis of HUVEC lysates under reducing conditions demonstrated significantly increased iC3b deposition in hypoxic/reoxygenated HUVECs compared with normoxic HUVECs. FACS analysis confirmed iC3b deposition. HUVEC-surface expression of CD46 and CD55 increases after hypoxia and/or reoxygenation., Conclusions: We conclude that (1) hypoxia and reoxygenation of HUVECs significantly increases iC3b deposition on HUVECs, (2) C3 deposition after hypoxia and reoxygenation is largely mediated by the classic complement pathway, and (3) HUVEC-surface expression of CD46 and CD55 increases after hypoxia and reoxygenation. These data demonstrate that hypoxia and reoxygenation of human endothelial cells activates the classic complement pathway despite an increase in complement C3 regulatory proteins.

Published
1997
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