Familial LCAT deficiency: from renal replacement to enzyme replacement.
نویسندگان
چکیده
Familial LCAT deficiency (FLD) is a recessive lipid disorder ultimately leading to end-stage renal disease (ESRD). We present two brothers with considerable variation in the age at which they developed ESRD. Kidney biopsies revealed both tubular and glomerular pathology. To date, no causal therapy is available, yet enzyme replacement therapy is in development.
منابع مشابه
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ورودعنوان ژورنال:
- The Netherlands journal of medicine
دوره 71 1 شماره
صفحات -
تاریخ انتشار 2013