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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.

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Case Report

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  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

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