• 作者：Kossi Akomola Sabi ; B茅fa Noto-Kadou-Kaza ; Daz茅 Appolinaire Gnionsahe ; Eyram Yoan Makafui Amekoudi ; Claude Mawufemo Tsevi ; Kokuvi Dzigbodi Tsonya ; D茅gnon Amedegnato ; Koffi Gnamey
• 关键词：SNC finlandais ; Mutation NPHS1 ; Togo
• 刊名：Néphrologie Thérapeutique
• 出版年：December, 2013
• 年：2013
• 卷：9
• 期：7
• 页码：494-496
• 全文大小：315 K

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 10 months, born premature at 34 weeks 6 days, 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 are killed in a similar table but not explored before 1 year of age. The diagnosis is confirmed by the SNCF genetic study NPHS1 gene encoding nephrin performed in our patient and her parents showed a double mutation of which c.[106delG] + [2728T>C] and p. at the nucleotide level. [Ala36fs*6] + [Ser91OPro] at the protein level inherited from each parent. The change was made to the 10th month of death in life after sepsis in a third of cortico-resistance.

Conclusion

The SNCF, autosomal recessive disease early, which remains a serious diagnosis, is genetic. This new mutation could she explained the severity of the SNCF in this family?