Results 1 to 10 of about 8,289 (238)

Biopsy-Proven Glomerulopathies in Romania: A 10-Year Nationwide Study [PDF]

Life
Glomerular diseases are a major cause of chronic kidney disease worldwide, yet epidemiological data from Eastern Europe, and Romania in particular, remain scarce.
Andreea Covic, Mihai Onofriescu, Flaviu R. Bob, Cristina Căpușă, Irina-Draga Căruntu, Otilia Ciurea, Adrian Covic, Simona Giusca, Ina Kacso, Adelina Mihăescu, Andreea Niculescu, Bogdan Obrișcă, Dacian Tirinescu, Adalbert Schiller, Alexandra Vrabie, Yuriy Maslyennikov, Gener Ismail   +16 more
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Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child [PDF]

Oman Medical Journal
Autosomal recessive polycystic kidney disease is one of the most prevalent inherited cystic kidney diseases in infants and children, common in highly consanguineous societies such as Oman. Karyomegalic interstitial nephritis is a rare cause of hereditary
Intisar Al Alawi, Maryam Al Shehhi, Naifain Al Kalbani, Aliya Al Hosni, Ashwaq Al Mimani, Issa Al Salmi, John A. Sayer   +6 more
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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
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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
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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
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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
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