[Changing c.106delG (p.Ala36fs*6) loss syndrome associated with congenital Finnish type: first case diagnosed in Togo].
OBJECTIVE
To report the first case of congenital nephrotic syndrome of the Finnish type (SNCF) in Togo associated with a new mutation of NPHS1.


METHODS
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 are killed in a similar table but not explored before 1year 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.


CONCLUSIONS
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?
Service de néphrologie et d'hémodialyse, centre hospitalier universitaire Sylvanus Olympio, BP 14148, Lomé, Togo. Electronic address: kossi.sabi@gmail.com.
Kossi Akomola
KA
Sabi
Béfa
B
Noto-Kadou-Kaza
Dazé Appolinaire
DA
Gnionsahe
Eyram Yoan Makafui
EY
Amekoudi
Claude Mawufemo
CM
Tsevi
Kokuvi Dzigbodi
KD
Tsonya
Dégnon
D
Amedegnato
Koffi
K
Gnamey
D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009404:Nephrotic Syndrome / Q000235:genetics*; D014037:Togo
D008565:Membrane Proteins; C113267:nephrin
Mutation NPHS1; NPHS1 mutation; SNC Finnish; SNC finlandais; Togo