دوره 10، شماره 1 - ( 1403 )
جلد 10 شماره 1 : e7 |
برگشت به فهرست نسخه ها
چکیده: (993 مشاهده)
Background and Objective: 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.
Case Report: 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.
Conclusion: The present case study shows that nephrocalcinosis caused by Lowe syndrome could leads to recurrent microscopic hematuria
Case Report: 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.
Conclusion: The present case study shows that nephrocalcinosis caused by Lowe syndrome could leads to recurrent microscopic hematuria
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