Nephrologie & therapeutique · 2013
[Changing c.106delG (p.Ala36fs*6) loss syndrome associated with congenital Finnish type: first case diagnosed in Togo].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Sabi Kossi Akomola, Noto-Kadou-Kaza Béfa, Gnionsahe Dazé Appolinaire, Amekoudi Eyram Yoan Makafui, Tsevi Claude Mawufemo, Tsonya Kokuvi Dzigbodi, Amedegnato Dégnon, Gnamey Koffi
Аннотация
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 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.
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?
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 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.
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?