Results 1 to 10 of about 131,131 (300)

Systemic lupus erythematosus with various clinical manifestations in a patient with hereditary angioedema: a case report

Allergy, Asthma & Clinical Immunology, 2022
Background Hereditary angioedema (HAE) is an inherited disease characterized by recurrent angioedema without urticaria or pruritus. The most common types of HAE are caused by deficiency or dysfunction in C1 esterase inhibitor (C1-INH-HAE).
Yusuke Ushio, Risa Wakiya, Tomohiro Kameda, Shusaku Nakashima, Hiromi Shimada, Mai Mahmoud Fahmy Mansour, Mikiya Kato, Taichi Miyagi, Koichi Sugihara, Rina Mino, Mao Mizusaki, Emi Ibuki, Norimitsu Kadowaki, Hiroaki Dobashi   +13 more
doaj   +1 more source

Phacolytic uveitis associated with spontaneous rupture of anterior capsule in a patient with Alport syndrome

Iatreia, 2019
Alport syndrome is a rare genetic disorder due to mutations involving the coding genes for type IV collagen characterized by renal failure, sensorineural hearing loss and ocular abnormalities.
López Torres, Vanessa, Ramírez-Cheyne, Julián Andrés , Lozano Cruz, Edgar, Salamanca Libreros, Omar Fernando   +3 more
doaj   +1 more source

Morphological characteristics of urine erythrocytes in children with erythrocyturia

Zdorovʹe Rebenka, 2017
Background. Nephropathies with erythrocyturia make up about 1/3 of all diseases of the kidneys and the urinary system, and they have some difficulties in differential diagnostics. Quite often, erythrocyturia is the only symptom of these diseases.
V.A. Minakova, I.V. Bagdasarova
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

Apoptosis in renal disease: a brief review of the literature and report of preliminary findings in childhood lupus nephritis

The Turkish Journal of Pediatrics, 2001
Apoptosis, a programmed form of cell death, is an important mechanism that maintains cellular homeostasis. The cellular content of tissues is regulated by a balance between cell proliferation and cell loss.
K Tinaztepe, S Ozen, S Güçer, S Ozdamar   +3 more
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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

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 data and hearing of individuals with Alport syndrome

Brazilian Journal of Otorhinolaryngology, 2008
Summary: Alport Syndrome (AS) is a hereditary disease, characterized by nephropathy, often times with sensorineural hearing loss and ocular defects. Aim: to analyze the clinical and hearing information from individuals with AS, more specifically the ...
Fatima Regina Abreu Alves, Fernando de Andrade Quintanilha Ribeiro   +1 more
doaj   +1 more source

Epstein syndrome with rapid progression to end stage renal disease

Saudi Journal of Kidney Diseases and Transplantation, 2009
The association of haematological abnormalities and hereditary nephritis is rare; it is mainly included in a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly, Fechtner, Sebastian, Epstein and Alport syndrome with macro ...
Alhindawi Esam, Al-Jbour Samah
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