C3 glomerulopathy – a new clinical entity
Authors:
E. Sládková 1; K. Pivovarčíková 2; J. Sýkora 1
Authors place of work:
Dětská klinika Lékařské fakulty v Plzni, Univerzity Karlovy v Praze a Fakultní nemocnice Plzeň
1; Šiklův ústav patologie Lékařské fakulty v Plzni, Univerzity Karlovy v Praze a Fakultní nemocnice Plzeň
2
Published in the journal:
Čes-slov Pediat 2018; 73 (3): 139-145.
Category:
Original Papers
Summary
C3 glomerulopathy is a differentially, diagnostically newly defined rare clinical entity with poor prognosis. Symptomatology is variable, the diagnosis is based on the results of immunofluorescent evaluation of renal biopsy, and the disease is confirmed by genetic testing and complete examination of the complement system. The accumulation of isolated C3 deposits without antibodies is a key histological finding.
We report two female patients with the same diagnosis and a relatively different course of disease. One patient is a heterozygous carrier of rare (p.A353V) and common (MCPggaac haplotype) mutation.
Key words:
C3 glomerulopathy, alternate complement pathway, complements, genetics, renal biopsy
Zdroje
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Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
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