Rare Kidney Diseases
di Arrigo Schieppati, Erica Daina, Adalberto Sessa, Giuseppe Remuzzi, 2001
Prefazione
As in all the other disciplines of medicine, nephrology also has its share of disorders that
are seldom or very seldom seen by the practising doctors. They are the rare diseases of the kidney.
Why whole book dedicated to the rare renal disorders?
First of all, for the sake and benefit of the patient.
Patients with a rare disorder are often condemned to neglet.
Their disease is often difficult to recognize. A few years ago a commission for rare
diseases of the American Government found that the delay between the onset of symptoms and the
final diagnosis for patients with a rare disease could be longer than five years for almost 15% of
cases and between one and five years 30%.
Whenever the diagnosis is obtained, the patient and his/her general physician very often
have difficults in finding relevant information on that particular disease, even now in the
internet era.
What patients and doctors most anxiously look for is a cure for the disease.
Unfortunately, many rare disease - including those of the kidney – are genetic in nature,
and a definite cure could be achieved only with gene therapy.
Sometimes, patient support groups claim that research in the area of rare diseases is
insufficient.
In several fields of medicine this is true, and the reasons are varied.
For one thing, as the disease is rare, it may be diffucult to collect enough cases to prove
a patogenetic hypotesis, or to experiment with a potentially new and effective treatment.
There are however several examples of how research into the etiology and patogenesis of rare
renal disorders as offered important information on normal phisiology or as lead to the discovery
of therapies of larger use.
This book is a collection of papers that rare disease of kidney are an important chapter of
nephrology.
Moreover, it demonstrates how many basic and clinical investigators have dedicated their
efforts to bring out of darkness into light a neglected area of the discipline.
The reader will be offered an updated insight into many different disorders, and will be
made more aware of the possibility to recognize them in his/her pratice.
Arrigo Schieppati
Erica Daina
Adalberto Sessa
Giuseppe Remuzzi
Page
1
2
|
