44 / 238
44
29
th
CONGRESS OF THE ESPU
16:23–16:26
S3-10 (PP)
A NOVEL NON-INVASIVE TEST FOR PRIMARY
HYPEROXALURIA (PH)
Bashir AHMED
1
, Sadaf ABA UMER KODWAVWALA
1
, Sajid SULTAN
1
, Ayesha ABID
2
,
Muhammad MUBARAK
3
and Adeeb Ul Hasan RIZVI
1
1) Sindh Institute of Urology & Transplantation, Philip G. Ransley Department of Paediatric Urology, Karachi, PAKISTAN
- 2) Sindh Institute of Urology & Transplantation, Centre for Human Genetics and Molecular Medicine, Karachi,
PAKISTAN - 3) Sindh Institute of Urology & Transplantation, Department of Pathology, Karachi, PAKISTAN
PURPOSE
To report a comparative analysis of genetic testing of primary hyperoxaluria (PH) Type I, II and III
with their histopathologically proven renal oxalosis.
MATERIAL AND METHODS
It is a prospective study of thirty cases where nephrectomies were performed for non functioning
kidney secondary to urolithiasis and histopathology revealed findings consistent with oxalosis. For
non invasive diagnosis of PH, same patients were screened for the sequencing of three genes
that are known to cause three types of primary hyperoxaluria, PH type I, alanine glyoxylate ami-
notransferase (AGXT), PH type II, glyoxylate reductase/hydroxypyruvate reductase (GRHPR) and
PH type III, 4-hydroxy-2-oxoglutarate aldolase 1 (HOGA1) genes.
RESULTS
Among these patients, 26 (86.6 %) were positive either for PH type I (80 %) or PH type II (6.6 %)
gene mutations. Four cases (13.4 %) had no mutations in any of the three genes.
CONCLUSIONS
Genetic testing can be a very useful, reliable and almost non-invasive test for the diagnosis of
primary hyperoxaluria with renal involvement compared to the gold standard liver biopsy. However
there are some PH for which the exact genetic defect has not been identified yet. To the best of our
knowledge this is the first documented study comparing the histopathology with genetic testing for
primary hyperoxaluria.