Blog entry by mohammad katout
RARE RENAL DISEASES: NEW FRONTIERS
Rare inherited kidney diseases are increasingly expanding thanks to next-generation sequencing techniques; with new disease entities being discovered and added to this rapidly growing list.
Many of these diseases are monogenic affecting not only children but also adults. At least 10% of adults and nearly all children who receive renal-replacement therapy have an inherited kidney disease.
This calls for challenging current clinical practice to maintain high index of suspicion, to promote precise clinical phenotyping, and to update diagnostic paradigms thereby ultimately improving rare disease diagnosis.
Rare kidney diseases are the perfect example of multidisciplinary approach necessitating close collaboration between pediatric nephrologists, geneticists, adult nephrologists, other physicians, nurses, social workers, and dietitians.
Clinical practice guidelines are usually built up on the basis of evidence-based medicine, nevertheless this is commonly lacking in orphan diseases. Alternatively, objective face-to face discussions of expert groups, where consensus between experts in the field of the disease is obtained, is seemingly an acceptable way to balance personal experience and available (as few as it might be) evidence.
Advances in genetics are expected to guide targeted interventional treatment and pharmacological orphan therapeutics. On the other hand, they have raised many ethical concerns regarding genetic counseling, geographical distribution of medical care, and health equity.
Happy Rare Disease Day February 28, 2015