JCU - Abstracts of the BAUS 2018 Scientific Meeting - June 2018 - 40

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identical twin pair. The complexity of multiple factors may
result in the variances seen in stone formation. Further
research into disease epigenetics may provide a better
insight into predicting phenotypic differences. This could
facilitate individualized treatment based on a prediction of
patients' disease severity.
P4-2 A Genome-wide association study
of kidney stone disease reveals 5 novel
susceptibility loci
Howles S1, Wiberg A2, Furness D2, Turney B1
Department of Surgical Sciences, University of Oxford, United
Kingdom, 2Nuffield Department of Orthopaedics, Rheumatology and
Musculoskeletal Sciences, University of Oxford, United Kingdom

1Nuffield

Introduction: Kidney stone disease is a major clinical
and economic health burden with a multifactorial aetiology and a heritability of 56%. We undertook the largest
genome-wide association study to date using data from
the UK Biobank to identify novel genetic factors contributing to nephrolithiasis.
Methods: ICD-10 and OPCS codes were used to identify
individuals with a history of nephrolithiasis and to exclude
those with disorders of calcium homeostasis, malabsorption and conditions associated with kidney stone disease.
All other individuals were used as controls.
Results: A total of 6537 nephrolithiasis cases and 388,509
controls were identified. Nine loci with multiple SNPs
achieving GWAS significance of p<5×10-࢞ were identified.
Of these, 5 loci were novel: DGKD region on chromosome
2q37.1 encoding the second messenger diacylglycerol kinase
delta, SLC22A1-SLC22A2-IGF2R on chromosome 6q25.3
encoding cation transporters and the insulin like growth factor 2 receptor, HIBADH region on chromosome 7p15.2
encoding 3-hydroxyisobutyrate dehydrogenase which has a
role in urinary acidification, CYP24A1 region on chromosome 20q13.2 encoding cytochrome P450 family 24 subfamily A1 which inactivates 1,25-dihydroxyvitamin D, and
GNAZ-RSPH14 region on chromosome 22q.11.23 encoding G-protein subunit Dz and radial spoke head 14 homolog,
a protein with an undefined function.As previously reported
ALPL, RGS14, DGKH and CLDN14 regions were also found
to be associated with kidney stone disease.
Conclusion: These results reveal novel susceptibility loci
for nephrolithiasis opening up new avenues of research
into the pathophysiology of this poorly understood disorder. This will facilitate development of novel treatments
for those suffering from kidney stone disease.
P4-3 Renal papillary biopsy & lithogenesis - an
insight
Bhat A1, Ahmed B1, Bhat M1, Bhat A2, Khandelwal N2
1Dr S. N Medical College Jodhpur, India, 2S.P.Medical College
Bikaner, India

Journal of Clinical Urology 11(1S)
Objective: Ever since the Alexander Randall hypothesis
that deposition of calcium phosphate in interstitium lays
the foundation stone. Objective of the study was to find
relationship of lithogenesis with papillary appearances &
biopsy in patients undergoing PCNL.
Materials and Methods: Retrospective data of 45 PCNL
patients in 2016 were collected which included blood biochemistry, 24 hour urine analysis and radiological evaluation. All ipsilateral papilla were inspected for shape, colour
at tip & stem, any erosion, pitting, retraction, suburothelial
deposits/Randall's plaque & ductal plugging. Papillary biopsy
was taken with 10F cup biopsy forceps. Biopsies taken
were examined for changes in ducts, mineral deposits &
any inflammatory changes. Stones were analysed by FTIR.
Results: Age ranged from 15-68 years. 64.45% showed
evidence of plaque. Papillary changes other than plaques
were seen in 35.55% of patients, which included collecting
duct plugs & papillary erosions in 17.78% & 11.11% respectively. Pitting was seen in 6.66% of patients. When stone
composition was compared with the endoscopic appearances a significant correlation between papillary changes
in oxalate vs. phosphate stones (P value 0.0009) was seen.
Oxalate stones formers had calcifications in interstitium
without inflammatory changes in 62.22% while in nonoxalate stone formers had calcifications in collecting ducts
with inflammatory changes in 26.67% (p value 0.002). No
biopsy related complications were noted.
Conclusions: Our study gives clue regarding separate
mechanisms in non-oxalate types of stone formation
which results in characteristic papillary changes and further proves the safety and feasibility of papillary biopsy
without any morbid complications.
P4-4 MIMIC Study: Does the size and location
of ureteric stones have an impact on the
effectiveness of medically expulsive therapy
in improving spontaneous stone passage in
patients presenting with acute ureteric colic?
Assaf N19, Shah T1, Gao C1, O'Keefe A2, Manning T3,
Peacocke A4, Cashman S1, Nambiar A1, Lamb B1,
Cumberbatch M1, Ivin N8, Maw J8, Ali Abdaal C8, Al
Hayek S8, Christidis D9, Bolton D9, Lawrentschuk
N9, Khan S10, Demirel S10, Graham S10, Koschel S11,
Badgery H11, Brennan J11, Wang L12, Nzenza T12,
Ruljancich P12, Begum R13, Hamad S13, Shetty A13,
Swallow D13, Abboudi H14, Jalil R14, DasGupta R14,
Ho C15, Parwaiz I15, Davenport K15, Cameron F16,
Shingles C16, Morrow J17, Curry D17, Young M17,
MacKenzie K18, Reid K18, Bordenave M18, Oyekan A19,
Sriprasad S19, Hayat Z20, Morrison-Jones V20, Laird
A21, Sharma A21, Phipps S21, Ngweso S22, Nyandoro
M22, Hayne D22, Hendry J23, Kerr L23, McIlhenny C23,
Harris A24, Rogers A24, Rodger F25, Docherty E25, Ng
G25, Seaward L25, Abdelmoteleb H26, Hawary A26,
Eldred-Evans D27, Bultitude M27, Stonier T28, Simson
N28, SIngh H28, Hatem E28, Arya M28, Tregunna R29,

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