1 / 17

Case Report

Case Report. Autosomal Recessive Polycystic Kidney Disease Family 54. ARPKD. ARPKD is characterized by the presence of multiple cysts (hence, "polycystic") in both kidneys . Clinical presentation can often be noted before birth by ultrasound.

katell-carver
Télécharger la présentation

Case Report

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Case Report Autosomal Recessive Polycystic Kidney Disease Family 54

  2. ARPKD ARPKD is characterized by the presence of multiple cysts (hence, "polycystic") in both kidneys . Clinical presentation can often be noted before birth by ultrasound. Affected newborn infants have a distended abdomen due to grossly enlarged kidneys. There is a wide clinical presentation involving the liver, pancreas, and rarely, the heart and brain

  3. Gene PKHD1 is the only gene known to be associated with the wide clinical spectrum of ARPKD. Localised to chromosome 6p21.1-p12 PKHD1 is 470KB in length It is a large gene -67 exons in the longest open reading frame No common mutations (Bergmann et al 2005)276 pathogenic mutations identified on 670 mutated alleles

  4. p12 0Mb 51Mb 107Mb 52Mb 51Mb 53Mb 54Mb p12.1 p12.3 p12.2 PKHD1 5’ 3’ D6S1573 D6S436 D6S465 D6S1714 D6S466 D6S243 Intron 60 Polycystic Kidney and Hepatic Disease 1 Chromosome 6

  5. Family referred for future prenatal diagnosis

  6. Flanking and intragenic marker panel Linkage D6S 436 3’ (sometimes excluded) D6S 465 3’ D6S 1714 intragenic D6S 243 intragenic intron 60 D6S 1573 5’ D6S466 5’

  7. Sequencing progress PKHD1 has 67 exons Sequencing identified the paternal mutation c.107C>CT[p.T36M] Maternal mutation unidentified

  8. Haplotypes for markers

  9. Fetus referred for prenatal diagnosis

  10. Recombination identified

  11. Order of individuals of genescan • Affected child • Father • Mother • Fetus

  12. D6S1714 D6S243

  13. D6S1573 D6S466

  14. p12 0Mb 51Mb 107Mb 52Mb 51Mb 53Mb 54Mb p12.1 p12.3 p12.2 PKHD1 5’ 3’ D6S1573 D6S436 D6S465 D6S1714 D6S466 D6S243 Intron 60 Polycystic Kidney and Hepatic Disease 1 Chromosome 6

  15. Location of X over • Look at other SNP’s within the gene towards the 5’ end • Exon 4 c.234C>CT [p.D78D] • Intron4 c.282-41A>AG • Intron 7 c.527+19C>CT • Exon 22 c.2278C>CT[p.R60R] • Exon 32.1 c.3785C>CT[p.A1262V] • Intron 48 c. 7733+33C>CT

More Related