Results 41 to 50 of about 8,746 (276)

A diagnosis confused with hereditary angioedema: nephrotic syndrome

Gülhane Tıp Dergisi
Hereditary angioedema (HAE) is a rare, autosomal dominant disease that primarily affects the skin, upper respiratory tract, and gastrointestinal system.
Öykü Ünsal, Elif Çetin Başaran, Buse Hacıoğlu, Sait Yeşillik, Özgür Kartal   +4 more
doaj   +1 more source

Cataract in a patient with the Alport syndrome and diffuse Leiomyomatosis Catarata em paciente com sindrome de alport e leiomiomatose difusa

Revista Brasileira de Oftalmologia, 2008
We describe a case of painless progressive loss of vision in a 15 years old male patient with Alport syndrome and diffuse Leiomyomatosis. After a comprehensive history and ocular examination, a diagnosis of bilateral posterior subcapsular cataracts was ...
Luis Santiago - Cabán, Cristóbal Cruz, Natalio J. Izquierdo   +2 more
doaj   +1 more source

Analysis of the Treatment Efficacy in Late Diagnosis of Alport Syndrome in a Child: Clinical Case

Вопросы современной педиатрии, 2023
Background. Alport syndrome is a systemic, hereditary, progressive disease characterized by ultrastructural changes in the glomerular basement membrane caused by pathogenic variants of type IV collagen genes.
Svetlana Ya. Volgina, Nailya A. Solovyeva, Galina A. Kulakova, Elena A. Kurmayeva, Liliya I. Mukhametdinova, Elina L. Rashitova   +5 more
doaj   +1 more source

Mucocutaneous Disease Activity and Damage Accrual in Systemic Lupus Erythematosus: Analyses From the Asia‐Pacific Lupus Collaboration Longitudinal Cohort Study

Arthritis Care &Research, EarlyView.
Objective This research article aims to describe the prevalence, associations, and health‐related quality of life (HRQoL) impact of mucocutaneous features of systemic lupus erythematosus (SLE). Methods Data from the Asia‐Pacific Lupus Collaboration cohort were analyzed (2013–2021).
Amanda M. Saracino, Yanjie Hao, Dylan Hansen, Yi‐Hsing Chen, Alberta Hoi, Vera Golder, Jiacai Cho, Aisha Lateef, Worawit Louthrenoo, Laniyati Hamijoyo, Shue Fen Luo, Yeong‐Jian Jan Wu, Sandra Navarra, Leonid Zamora, Chak Sing Lau, Shirley Chan, Zhanguo Li, Hai‐hong Yao, Sargunan Sockalingam, B. M. D. B. Basnayake, Yasuhiro Katsumata, Masayoshi Harigai, Zhuoli Zhang, Jun Kikuchi, Yuko Kaneko, Tsutomu Takeuchi, Madelynn Chan, Sang‐Cheol Bae, Fiona Goldblatt, Sean O'Neill, Geraldine Hassett, Kristine Ng, Nicola Tugnet, Mark Sapsford, Yih Jia Poh, Michael Tee, Cherica Tee, Naoaki Ohkubo, Yoshiya Tanaka, Rangi Kandane‐Rathnayake, Eric Morand, Shereen Oon, Mandana Nikpour   +42 more
wiley   +1 more source

Progressive and nonprogressive hereditary chronic nephritis

, 1973
Progressive and nonprogressive hereditary chronic nephritis. Two groups of patients had hereditary chronic nephritis (HCN). The first group included six patients: microscopic hematuria was found in all six; the nephrotic syndrome developed in 3 patients ...
Grünfeld, Jean-Pierre, Hinglais, Nicole, Bois, Etienne P.   +2 more
core   +1 more source

The Association of Physical Function With Psychosocial Patient‐Reported Outcomes in People With Systemic Lupus Erythematosus

Arthritis Care &Research, EarlyView.
Objective To evaluate how modifiable psychosocial factors and fatigue relate to physical functioning in patients with systemic lupus erythematosus (SLE). Methods In this cross‐sectional study of two demographically distinct cohorts (Approaches to Positive, Patient‐Centered Experiences of Aging with Lupus [APPEAL] and California Lupus Epidemiology Study
Mrinalini Dey, Jessica Fitzpatrick, Maria Dall'Era, Charmayne Dunlop‐Thomas, Courtney Hoge, S. Sam Lim, Patricia P. Katz, Jinoos Yazdany, Laura C. Plantinga   +8 more
wiley   +1 more source

Epidemiology of biopsy‐proven glomerular diseases in Chinese children: A scoping review

Chronic Diseases and Translational Medicine, 2022
Background Glomerular disease is the leading cause of chronic kidney disease globally. No scoping review reports have focused on China's spectrum of glomerular diseases in children.
Yetong Li, Yue Yang, Li Zhuo, Dan Wu, Wenge Li, Xiaorong Liu   +5 more
doaj   +1 more source

Clinical, Histologic, and Serological Predictors of Renal Function Loss in Lupus Nephritis

Arthritis Care &Research, EarlyView.
Objective Kidney survival is the ultimate goal in lupus nephritis (LN) management, but long‐term predictors remain inadequately studied, requiring long‐term follow‐up. This study aimed to identify baseline and early longitudinal predictors of kidney survival in the Accelerating Medicines Partnership LN longitudinal cohort.
Shangzhu Zhang, Laurence Magder, Daniel Goldman, Judith A. James, Joel M. Guthridge, Carla Guthridge, Peter Izmirly, Jill P. Buyon, H. Michael Belmont, Richard A. Furie, Noa Schwartz, Chaim Putterman, Jennifer L. Barnas, Jennifer H. Anolik, Sarah French, Maria Dall'Era, Avi Z. Rosenberg, Jeffrey Hodgin, Dawit S. Demeke, the Accelerating Medicines Partnership Rheumatoid Arthritis and Systemic Lupus Erythematosus (RA/SLE) Network, Michelle Petri, Andrea Fava   +21 more
wiley   +1 more source

Alport's syndrome and benign familial haematuria: light and electron microscopic studies of the kidney [PDF]

, 2008
INTRODUCTION Hereditary nephropathy is clinically characterized by the familial occurrence in successive generations of progressive haematuric nephritis and neural hearing loss.
Savić, Vojin, Brajušković, Goran, Hrvacević, Rajko, Jovanović, Dijana, Maksić, Djoko, Maksić, Đoko, Kovacević, Zoran, Dimitrijević, Jovan, Jovanović, Dragan, Micić, Sava, Aleksić, Anastasija, Vignjević, Sanja, Pilcević, Dejan, Pilcević, Dijana, Todorović, Vera, Bogdanović, Radovan   +15 more
core   +1 more source

Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis

, 2005
Apolipoprotein A-I amyloidosis is a rare, late-onset, autosomal dominant condition characterized by systemic deposition of amyloid in tissues, the major clinical problems being related to renal, hepatic, and cardiac involvement. Described is the clinical
Merlini G, Izzi C, CAPISTRANO M., SCOLARI F., SCOLARI, Francesco, Viola BF, Biasi L, ROCKEN C., Gregorini G, Donadei S, VIOLA B. F., Röcken C, MERLINI, GIAMPAOLO, Scalvini T, BIASI, LUIGI, Tardanico R, Capistrano M, Obici L, GREGORINI G., DONADEI S., IZZI C., TARDANICO R., OBICI L., SCALVINI T.   +23 more
core   +1 more source