Results 11 to 20 of about 131,131 (300)

Pathology of hereditary nephritis [PDF]

Journal of Clinical Pathology, 1968
This report describes the renal pathology in three siblings with hereditary nephritis. All three cases showed combined features of chronic glomerulonephritis, pyelonephritis, and interstitial nephritis. Foam cells were seen in only one case. These findings support the contention of Krickstein, Gloor, and Balogh (1966) that the renal changes in ...
V. V. Joshi, V. V. Joshi
openaire   +4 more sources

Alport syndrome: new advances in the last decade [PDF]

Childhood Kidney Diseases, 2022
Alport syndrome (AS) is a progressive hereditary nephritis that is often accompanied by sensorineural hearing loss and ocular abnormalities. It is inherited in three modes of X-linked AS (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS ...
Ji Hyun Kim
doaj   +1 more source

Clinical features of cardiac lesion in patients with generalized sarcoidosis [PDF]

Терапевтический архив, 2018
The article presents a clinical observation of two patients with generalized sarcoidosis. The woman typical granulomatous changes in the lungs and lymph nodes combined with atrial fibrillation, kidney failure and hereditary thrombophilia, men with ...
E.N. POPOVA, L.A. STRIZHAKOV, V.I. SHOLOMOVA, A.B. PONOMAREV, S.V. MOISEEV, M.U. BROVKO, I.B. BONDARENKO, L.A. PONOMAREVA, V.V. FOMIN   +8 more
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A single heterozygous nonsense mutation in the TTC21B gene causes adult‐onset nephronophthisis 12: A case report and review of literature

Molecular Genetics & Genomic Medicine, 2022
Background Nephronophthisis type 12 (NPHP 12) is a rare cilia‐related cystic kidney disease, caused by TTC21B mutation, mainly involving the kidneys, which generally occurs in children. Our study aimed to illustrate its clinical, pathological and genetic
Dan Wang, Xionghui Chen, Qiong Wen, Zhijian Li, Wei Chen, Wenfang Chen, Xin Wang   +6 more
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Pulmonary manifestations of systemic karyomegaly

Respiratory Medicine Case Reports, 2020
Over 40 years ago, abnormal enlargement of the nucleus of tubular epithelial cells was reported in a rare distinct hereditary chronic interstitial nephritis, karyomegalic interstitial nephritis (KIN).
Levent M. Akyürek, Aziz Hussein, Andrew G. Nicholson, Nils-Johan Mauritz, Johan Mölne   +4 more
doaj   +1 more source

Novel Therapies for Alport Syndrome

Frontiers in Medicine, 2022
Alport syndrome (AS) is a hereditary kidney disease associated with proteinuria, hematuria and progressive kidney failure. It is characterized by a defective glomerular basement membrane caused by mutations in type IV collagen genes COL4A3/A4/A5 which ...
Efren Chavez, Juanly Rodriguez, Yelena Drexler, Alessia Fornoni, Alessia Fornoni   +4 more
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The same heterozygous Col4A4 mutation triggered different renal pathological changes in Chinese family members

Frontiers in Genetics, 2023
Background: Mutations in the collagen components of the glomerular basement membrane (GBM) often lead to hereditary glomerulonephritis. Previous studies have identified that autosomal dominant mutations of Col4A3, Col4A4 or Col4A5 are associated with ...
Fengming Zhu, Yueqiang Li, Yuxi Wang, Ying Yao, Ying Yao, Rui Zeng, Rui Zeng   +6 more
doaj   +1 more source

"Preliminary Report: EVIDENCE OF AUTOSOMAL RECESSIVE FORM OF ALPORT SYNDROME IN IRAN " [PDF]

Iranian Journal of Public Health, 1993
Alport syndrome is a progressive hereditary nephritis leading to renal failure. Nearly all of the documents declare that Alport syndrome is inherited as X-linked dominant trait and reports of autosomal inheritance form is very rare.
D.D. Farhud; T.Rezaie Jami; M.R. Khosh-sorour; M. Islami; B.Broumand
doaj   +2 more sources

Epstein Syndrome

Saudi Journal of Kidney Diseases and Transplantation, 2020
Epstein syndrome is characterized by sensorineural hearing impairment, macro- thrombocytopenia without neutrophil inclusion bodies, and hereditary nephritis which can progress to end-stage renal disease (ESRD) in adolescence.
Sana Barrah, Rania Kheder, Hela Jebali, Madiha Krid, Wided Smaoui, Soumaya Beji, Fathi Ben Hmida, Lilia Ben Fatma, Lamia Rais, Mohamed Karim Zouaghi   +9 more
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2010 international consensus algorithm for the diagnosis, therapy and management of hereditary angioedema [PDF]

, 2010
Background We published the Canadian 2003 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema (HAE; C1 inhibitor [C1-INH] deficiency) and updated this as Hereditary angioedema: a current state-of-the-art ...
S. Waserman, Harmat, George, E. Leith, Bernstein Jonathan, Bowen, Tom, Leith, Eric, Doris Neurath, Craig, Timothy, Paul K Keith, Eric Leith, A. Hamed, D. Moldovan, Zuraw Bruce, Betschel Stephen, Avner Reshef, Dean, John, Cicardi Marco, Moldovan, Dumitru, Lilian Varga, Hilary J Longhurst, Rowe Anne, Nordenfelt Patrik, Barbara Mako, Harmat George, B. Ritchie, Martinez-Saguer, Inmaculada, Fust George, Della Cogar, Inmaculada Martinez-Saguer, George Fust, Devaraj, Ramachand, Mike Frank, Richard Warrington, J. Bernstein, Rowan, Dereth, Nielsen Erik W, Li, Henry, Tsai Ellie, D. Cogar, Timothy Craig, Zhi Xiang, Poon Man-Chiu, J. Brosz, E. Tsai, Marco Cicardi, R. Schellenberg, R. Warrington, Sur, Smeeksha, B. Mako, I. Nagy, Bork, Konrad, Frank Mike, George Harmat, Frank, Mike, Karen Binkley, H. Lyons, Schellenberg, Robert, Longhurst, Hilary, Erik W Nielsen, L. Varga, Farkas Henriette, Henriette Farkas, Mako, Barbara, Devaraj Ramachand, Longhurst Hilary J, G. E. Rivard, Rusicke, Eva, Hamed, Azza, Kreuz, Wolfhart, Eva Rusicke, Poon, Man-Chiu, Späth, Peter, Binkley Karen, Anne Rowe, Craig Timothy, Istvan Nagy, Neurath, Doris, Xiang, Zhi Yu, Bowen Tom, E. W. Nielsen, Lacuesta, Gina, Sean Mace, Bouillet Laurence, Nagy Istvan, Lacuesta Gina, Brosz Kristylea, Nielsen, Erik W, John Brosz, D. Rowan, D. Neurath, Peter Späth, A. Kanani, Nagy, Istvan, Ameratunga Rohan, Bruce Ritchie, Aygoeren-Pürsün Emel, Li Henry, A. Rowe, G. Lacuesta, Keith Paul K, B. Zuraw, T. Craig, Ritchie, Bruce, Caballero Teresa, Cogar Della, S. Mace, M. Frank, Dumitru Moldovan, S. Betsche, Mace Sean, M. Poon, Zhi Yu Xiang, Lyons, Harriet, Waserman Susan, J. Dean, T. Caballero, Xiang Zhi, Tom Bowen, Rohan Ameratunga, Gina Lacuesta, M. Levi, Smith-Foltz Sarah, S. Sur, Brosz, John, Björkander, Janne, Aygören-Pürsün, Emel, Warrington Richard, Aygoeren-Pürsün, Emel, Susan Waserman, Binkley, Karen, Waserman, Susan, Ritchie Bruce, Donald Stark, Keith, Paul K, Xiang, Zhi Y, Bygum, Anette, Bruce Zuraw, Anette Bygum, H. Li, R. Ameratunga, Bork Konrad, Robert Schellenberg, Rivard Georges-Etienne, Sarah Smith-Foltz, Caballero, Teresa, I. Martinez Saguer, Reshef Avner, Martinez Saguer, Inmaculada, H. J. Longhurst, Varga Lilian, J. Björkander, Laurence Bouillet, Palinder Kamra, Leith Eric, Betschel, Stephen, Bernstein, Jonathan, Ellie Tsai, T. Bowen, K. Brosz, Ramachand Devaraj, J. Hebert, Rowe, Anne, L. Bouillet, Kristylea Brosz, Dereth Rowan, Marcel Levi, Neurath Doris, P. Späth, Kanani, Amin, G. Harmat, M. Cicardi, Kanani Amin, Bygum Anette, Stephen Betschel, Sur Smeeksha, Martinez-Saguer Inmaculada, G. Fust, Nordenfelt, Patrik, Teresa Caballero, Bouillet, Laurence, Fust, George, H. Farkas, Jonathan Bernstein, Levi, Marcel, Jacques Hebert, Keith, Paul K., Stark, Donald, P. Nordenfelt, Hebert, Jacques, Xiang, Zhi, Warrington, Richard, D. Stark, Harriet Lyons, A. Bygum, Longhurst, Hilary J, Stark Donald, Henry Li, Rowan Dereth, Farkas, Henriette, Lyons Harriet, Bygum, Anette; id_orcid, Levi Marcel, Kamra, Palinder, Dean John, Ameratunga, Rohan, E. Aygoeren Pürsün, A. Reshef, Brosz, Kristylea, Janne Björkander, R. Devaraj, Konrad Bork, P. K. Keith, Björkander Janne, Kamra Palinder, Bernstein, Jonathan A., Späth Peter, Azza Hamed, Schellenberg Robert, P. Kamra, Cicardi, Marco, Amin Kanani, Mace, Sean, Smeeksha Sur, Levi, Marcel M., Y. X. Zhi, Varga, Lilian, Reshef, Avner, S. Smith Foltz, Georges-Etienne Rivard, Rusicke Eva, Rivard, Georges-Etienne, Smith-Foltz, Sarah, K. Binkley, Yu Xiang, Zhi, Emel Aygoeren-Pürsün, Cogar, Della, Hebert Jacques, Patrik Nordenfelt, E. Rusicke, Brosz John, John Dean, Mako Barbara, Zuraw, Bruce, Moldovan Dumitru, W. Kreuz, K. Bork, Tsai, Ellie, Kreuz Wolfhart, Man-Chiu Poon, Wolfhart Kreuz, Nielsen, Erik W., Hamed Azza   +251 more
core   +1 more source