Article
[Changing c.106delG (p.Ala36fs*6) loss syndrome associated with congenital Finnish type: first case diagnosed in Togo].
Nephrologie & therapeutique - 1 Dec 2013
Sabi Kossi Akomola, Noto-Kadou-Kaza Béfa, Gnionsahe Dazé Appolinaire, Amekoudi Eyram Yoan Makafui, Tsevi Claude Mawufemo, Tsonya Kokuvi Dzigbodi, Amedegnato Dégnon, Gnamey Koffi
Abstract excerpt
OBJECTIVE: To report the first case of congenital nephrotic syndrome of the Finnish type (SNCF) in Togo associated with a new mutation of NPHS1. OBSERVATION: Our study focused on a female infant of 10months, born premature at 34weeks 6days, followed from birth to pure SNC discovered the 10th day of life. Monitoring and pregnancy outcome unremarkable. It is the third in a family of three children, the first two...
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