Results 11 to 20 of about 8,566 (280)

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
doaj   +1 more source

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

Molecular genetics of hereditary nephritis

Kidney International, 1992
Stephen T. Reeders
openaire   +3 more sources

HEREDITARY FAMILIAL NEPHRITIS

Nihon Naika Gakkai Zasshi, 1972
Yasuo HASHIMOTO, Mayumi MORI, Ichiro KANAZAWA, Tadashi ISHIKAWA, Toshiyuki TANAKA, Ryuichi DOFUKU, Keiji KINUGASA, Haruo SUGANO, Takehide TAKUMA   +8 more
openaire   +3 more sources

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
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

IgA-nephropathy in systemic diseases, persistent infections, chronic liver diseases: literature review

Лечащий Врач, 2021
The review discusses peculiarities of secondary IgA-nephropathy, complicating Henoch–Schonlein purpura,spondyloarthropathies, gluten enteropathy HCV infections, AIDS, liver cirrhosis, hereditary nephritis.
A. Yu. Nikolaev, A. V. Malkoch
doaj  

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

MARKERS LEVEL OF ENDOTHELIAL DYSFUNCTION (ENDOTELIN-1 AND NITROGEN OXIDE) IN BLOOD SYROVISTS AND ALBUMINURIA IN CHILDREN WITH ERYTHROCYTURIA

Український Журнал Нефрології та Діалізу, 2017
The aim of our study was to investigate the levels of endothelin-1 and aside nitrogen in the serum of children with kidney diseases that clinically present with hematuria syndrome.
V. Minakova
doaj   +1 more source

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