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Pediatrics Genetics And Genetic Disorders 8679df57

Mutation in NPHS 1 gene causes which of the following disease?

A
Alport syndrome
B
Congenital finish type nephritic syndrome
C
Focal segmental glomerulonephritis
D
nail patella syndrome
High-Yield Explanation
Ans. B. Congenital Finnish type nephritic syndromeCongenital nephrotic syndrome Finnish type is a genetic condition of the kidney that begins early in development during pregnancy or within the first three months of life. The syndrome is characterized by a group of symptoms, including protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, and swelling (nephrotic syndrome), which progresses rapidly to end-stage kidney disease. Infants with congenital nephrotic syndrome may have failure to thrive and frequent infections. Although more commonly seen in individuals of Finnish descent, congenital nephrotic syndrome Finnish type has been reported worldwide. Congenital nephrotic syndrome Finnish type is caused by mutations in the NPHS1 gene and is inherited in an autosomal recessive manner.

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