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BRIEF REPORT
Year : 2018  |  Volume : 1  |  Issue : 2  |  Page : 93-95

Renal involvement in a child with Donnai-Barrow syndrome


1 Department of Pediatric Nephrology, Sheikh Khalifa Medical City, Abu Dhabi, UAE
2 Medical Student, Christian Medical College, Ludhiana, Punjab, India

Correspondence Address:
Dr Gurinder Kumar
Department of Pediatric Nephrology, Sheikh Khalifa Medical City, Al Karamah Street, Abu Dhabi
UAE
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/AJPN.AJPN_22_18

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Donnai-Barrow or facio-oculo-acoustico-renal (DB/FOAR) syndrome is characterized by typical craniofacial features, ocular findings, sensorineural hearing loss and agenesis of the corpus callosum along with varying degree of intellectual disability. Renal involvement in the form of low molecular weight proteinuria is commonly reported. We report a case of an 8-year-old girl with DB/FOAR syndrome which was genetically confirmed to have a novel frameshift mutation, c.13139del in exon 72 of LRP2, the gene encoding low density lipoprotein receptor related protein 2 precursor, megalin. The child had chronic kidney disease (CKD) and significant proteinuria with focal segmental glomerulosclerosis on renal biopsy. Our case highlights presentation in childhood with this rare syndrome, with significant renal involvement as nephrotic range proteinuria and CKD. Children with DB/FOAR syndrome need close follow up with nephrologist.


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