Cystic fibrosis patients dating other cystic fibrosis patients

20-Jul-2018 10:19

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Intensive medical therapy to control bacterial infections, combined with renal transplantation, was judged to offer a good opportunity for survival with an acceptable quality of life for infants with congenital nephrotic syndrome. (1982) found an accumulation of type IV collagen in the renal cortex in renal biopsies from patients with congenital nephrotic syndrome.The accumulation of the collagen was out of proportion to another basement membrane protein, laminin.(1999) estimated the frequency to be about 1 per 500 live births, giving an incidence 20 times greater than that observed in Finland and predicting that approximately 8% of Groffdale Mennonites are carriers of the NPHS1-causing allele. The most common Finnish mutation was a deletion of 2 nucleotides in exon 2 (602716.0001), resulting in a frameshift and a truncated protein.The predicted nephrin protein belongs to the immunoglobulin family of cell adhesion molecules and is specifically expressed in renal glomeruli. (1999) confirmed the role of nephrin in NPHS1, showed that a major mutation (602716.0005) was shared by families with nephrosis that are in the Groffdale Conference, and showed that this mutation was most likely of recent origin, uncovered by inbreeding and amplified by genetic drift.

The sibs had normal growth, and renal function was preserved in both.

A number sign (#) is used with this entry because nephrotic syndrome type 1 (NPHS1), also known as Finnish congenital nephrosis, is caused by homozygous or compound heterozygous mutation in the gene encoding nephrin (NPHS1; 602716) on chromosome 19q13.

The nephrotic syndrome is characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema.

In OMIM, these disorders are classified as NPHS or FSGS according to how they were first designated in the literature.

It is important to recognize that FSGS is a histologic pattern of renal injury: some patients with FSGS on biopsy have nephrotic syndrome, whereas others have only mild proteinuria.

The data suggested that the major Mennonite mutation probably predated the split from the Weaverland Conference, since 1 proband in the previous group was a double heterozygote with 1 copy of the major nephrin mutation and a second novel mutation (602716.0006), possibly contributed through a non-Mennonite lineage.

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