Results 11 to 20 of about 8,550 (230)

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

Generation of an induced pluripotent stem cell line (SHCDNRi001-A) from a patient with X-linked Alport syndrome carrying a heterozygous p.G409S (c. 1225 G > A) mutation in the COL4A5 gene

Stem Cell Research, 2020
X-linked Alport syndrome (XLAS) is a rare form of hereditary nephritis caused by mutations in the COL4A5 gene encoding the type IV collagen α5 chain. A skin biopsy was performed on one female patient with XLAS who carried a heterozygous p.G409S (c.
Lei Sun, Jing Zhang, Xin-yu Kuang, Yu-lin Kang, Ying Wu, Wen-yan Huang   +5 more
doaj   +1 more source

Congenital thrombocytopenia with nephritis: The first case of MYH9 related disorder in Serbia [PDF]

Vojnosanitetski Pregled, 2014
Introduction. The group of autosomal dominant disorders - Epstein syndrome, Sebastian syndrome, Fechthner syndrome and May-Hegglin anomaly - are characterised by thrombocytopenia with giant platelets, inclusion bodies in granulocytes and ...
Kuzmanović Miloš, Kunishima Shinji, Putnik Jovana, Stajić Nataša, Paripović Aleksandra, Bogdanović Radovan   +5 more
doaj   +1 more source

Hereditary nephritis. [PDF]

BMJ, 1972
Symboulidis, A., Voudiclaris, S., Mayopoulou-Symvoulidis, D., Katirtsoglou, A.   +3 more
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Тhe сlinical and мorphological сharacteristics оf nephropathy first manifested with isolated hematuria

Zdorovʹe Rebenka, 2017
Background. Nephropathy associated with hematuria progress represent the greatest differential diagnostic difficulties because of the similarity of clinical manifestations, especially at the early stages of the disease, which tend to prolonged and ...
V.A. Minakova, V.N. Nepomnyashchy, I.V. Bagdasarova   +2 more
doaj   +1 more source

Nephronophthisis and medullary cystic kidney disease complex [PDF]

Vojnosanitetski Pregled, 2005
Background. Nephronophthisis and medullary cystic kidney disease complex refers to the genetic heterogeneous group of inherited tubulointerstital nephritis. Nephronophthisis comprises at last 3 clinical manifestations, has the autosomal recessive pattern
Stanišić Marijana, Hrvačević Rajko, Paunić Zoran, Petrović Stanko   +3 more
doaj   +1 more source

Negative Staining for COL4A5 Correlates With Worse Prognosis and More Severe Ultrastructural Alterations in Males With Alport Syndrome

Kidney International Reports, 2017
Alport syndrome (AS) is a genetic disorder characterized by progressive hematuric nephropathy with or without sensorineural hearing loss and ocular lesions. Previous studies on AS included mostly children.
Samar M. Said, Mary E. Fidler, Anthony M. Valeri, Brooke McCann, Wade Fiedler, Lynn D. Cornell, Mariam Priya Alexander, Ahmed M. Alkhunaizi, Anne Sullivan, Carl H. Cramer, Marie C. Hogan, Samih H. Nasr   +11 more
doaj   +1 more source

Renal transplant in a child with Alport syndrome

Indian Journal of Transplantation, 2017
Alport syndrome is a rare inheritable renal disease characterized by renal, cochlear, and ocular involvement. Patients commonly require renal replacement therapy in the second or third decade of life.
Rajendra B Nerli, Shridhar C Ghagane, Mahantesh V Patil, Neeraj S Dixit   +3 more
doaj   +1 more source