en تخصصي Special گزارش مورد case report <div style="text-align: justify;"><span style="font-family:Times New Roman;"><span style="font-size:14px;"><span style="line-height:14.0pt"><b><span style="color:#24a3a0">Background and Objective:</span></b> Lowe syndrome (LS) is a very rare syndrome characterized by the triad of intellectual disability, cataracts, and proximal renal tubule dysfunction due to a mutation of the oculocerebrorenal (OCRL) gene encoding the OCRL-1 protein. This case report describes an LS boy with a different familial complication.</span><br> <span style="line-height:14.0pt"><b><span style="color:#24a3a0">Case Report:</span></b> We report a 7-year-old boy presented with failure to thrive (FTT), congenital cataract, leg deformity, genu varus, short stature, renal tubular acidosis (Fanconi syndrome), mental retardation and normal glomerular filtration rate who was diagnosed with LS 6 years ago. This family includes the parents and 4 sons, the eldest and the youngest are normal, and the second and third children in the family have persistent microscopic hematuria.</span><br> <span style="line-height:14.0pt"><b><span style="color:#24a3a0">Conclusion:</span></b> The present case study shows that nephrocalcinosis caused by Lowe syndrome could leads to recurrent microscopic hematuria</span></span></span></div> Congenital Cataract, Intellectual Disability, Kidney Stone, Lowe Syndrome, Proteinuria 0 0 http://caspianjp.ir/browse.php?a_code=A-10-300-1&slc_lang=en&sid=1 Mohsen Akhavan Sepahi akhavansepahimm@gmail.com 10031947532846004770 10031947532846004770 Yes Department of Pediatric Nephrology, School of Medicine, Qom University of Medical Sciences, Qom, Iran Mohammad Hossein Akhavan Sepahi mohammadakhavansepahi@yahoo.com 10031947532846004771 0009-0004-3374-4521 No Department of Dentistry, School of Medicine, Dentist Student, A.I. Yevdokimov Moscow State University of Medical and Dentistry Sciences, Moscow, Russia