Management dilemmas in pediatric nephrology: XXXX .

@entity1 @entity1375 @entity851 @entity101 @entity548 @entity1887 @entity16 @entity1373 @entity8488 @entity8518 @entity2744 @entity381 @entity1434 @entity74 @entity6126 @entity715 @entity3043
BACKGROUND: @entity8518 is a rare, inherited @entity74 caused by the accumulation of free @entity1434 in lysosomes. It is treated by the administration of @entity8488 , which should be monitored by trough white blood cell (WBC) @entity1434 measurements to ensure effective treatment. CASE-DIAGNOSIS/TREATMENT: The index case had an older brother who had previously been diagnosed with @entity8518 , allowing early diagnosis of the index case at the age of 5  months. @entity8488 therapy was started at the age of 3  years; however, monitoring of WBC @entity1434 levels did not occur on a regular basis during most of his life. @entity851 improved after correction of electrolyte disturbances, the initiation of @entity8488 therapy and treatment with recombinant @entity1 growth hormone. Renal replacement therapy was started at the age of 11  years, and renal transplantation was performed at the age of 12  years. Extra-renal @entity1434 accumulation caused multiple @entity2744 (including @entity1887 , @entity1375 and @entity6126 ), @entity16 , @entity3043 owing to @entity381 and portal @entity101 due to nodular regenerative @entity1373 , aggravated by @entity715 and partial portal vein @entity715 . The @entity1 died of diffuse @entity548 caused by severe portal @entity101 . CONCLUSION: @entity8488 treatment should be started as early as possible, and dosage should be monitored and adapted based on trough WBC @entity1434 levels. RELEVANT INTERNATIONAL GUIDELINE: Emma F et al. (2014) @entity8518 : an international consensus document. Nephrol Dial Transplant 29:iv87-iv94.
