A specific point mutation p.Arg246Gln in LMXB1 has recently been reported in a family with isolated FSGS, and no ultrastructural abnormalities of the GBM or extrarenal manifestations. Case Report: We report the same LMXB1 mutation in a family with two affected members. The index case is a twelve year old boy, who presented with acute appendicitis and was noted to have mild lower limb oedema, significant proteinuria (5.93 g/L), hypoalbuminemia (albumin

29 g/L) and normal renal function. Additional investigations for the cause www.selleckchem.com/products/dabrafenib-gsk2118436.html of proteinuria were negative. Renal biopsy showed variable glomerular basement membrane (GBM) thickening

and electron microscopic findings of a focally wrinkled GBM, and scattered aggregates of collagen fibrils and Ku-0059436 in vitro small cellular blebs. The patient’s mother had a history of childhood failure to thrive and nephrotic syndrome and had progressed to end stage renal failure. She had undergone a deceased donor renal transplant which failed secondary to recurrent FSGS. Mutation testing for NPHS1 and NPHS2 were negative. Whole exome sequencing was undertaken at the Beijing Genomics Institute and identified a heterozygous mutation of LMX1B (NM_001174146:c. 737 G>A:p.Arg246Gln). Conclusions: Whole exome sequencing of patients with genetic disease of unknown aetiology is allowing for rapid genetic diagnoses and should be considered in steroid resistant patients with nephrotic syndrome.

This patient adds to the genotype/phenotype variability associated with LMXB1. 196 EVALUATION OF VALIDITY OF DATA COLLECTION IN ANZDATA N AUNG, S MAY Tamworth Base Hospital, New South Wales, Australia Aim: To evaluate the validity of pathology data collected for ANZDATA using one result (December) from a 12 months period of data collection. Background: Each year, ANZDATA surveys are sent out to participating renal units across Australia for collection of pathology data at one time point only. Methods: We randomly select 20 patients from our renal unit and compared their range of monthly phosphate, hemoglobin Smoothened and ferritin level over 12 months with the data entered for ANZDATA. Results: The finding shows significant differences in all 3 parameters we conducted. With phosphate level, maximal individual difference between data range and data entry is 2.04 mmol/L (70%); the difference from mean is 0.628 mmol/L (24%) and median is 1.255 mmol/L (59%). With hemoglobin level, maximal individual difference between data range and data entry is 63 g/dL (41%); the difference from mean is 18.42 g/dL (14%) and median is 19.5 g/dL (15%).