Sindrome di Fanconi
Table of Contents
Definizione
La sindrome di Fanconi è un disordine generalizzato del tubulo prossimale caratterizzato da glicosuria, aminoaciduria fosfaturia e bicarbonaturia; vi è inoltre un’elevata perdita di urina, sodio, potassio, calcio, magnesio e acido urico. I livelli ematici di glucosio e aminoacidi rimangono comunque normali, mentre sono riscontrabili ipobicarbonatemia, ipopotassiemia, ipofosfatemia ipouricemia, poliuria e perdita di sali, proteinuria tubulare e talora albuminuria. La sindrome di Fanconi non ha alcuna relazione e non deve essere confusa con l’anemia di Fanconi.
Eziopatogenesi
E’ possibile distinguere cause ereditarie e acquisite della sindrome di Fanconi. Le cause acquisite che possono indurre la sindrome sono numerose: azione tossica di metalli pesanti ( piombo, cadmio, mercurio), di sostanze chimiche (acido maleico) e di farmaci (gentamicina, cefalosporine e cisplatino), malattie renali, sia primitive (sindrome nefrosica, trapianto renale, malattia cistica midollare) sia secondarie ( mieloma, gammopatia monoclonale, iperparatiroidismo). I disordini ereditari sono classificati in forme molto rare e sporadiche che interessano primitivamente il tubulo prossimale e talora trasmesse con modalità autosomica dominante (idiopatica) in forme che derivano dall’ accumulo di metalli tossici (secondarie). Queste ultime sono malattie complesse a trasmissione recessiva e la sindrome di Fanconi fa parte dello spettro clinico.
Sintomi
Un bambino affetto da sindrome di Fanconi presenta la seguente sintomatologia:
- Poliuria
- Polidipsia
- Ritardo di crescita
- Rachitismo resistente alla vitamina D.
Nell’adulto i sintomi sono meno gravi e caratterizzati da:
- Dolori ossei legati alla presenza di osteomalacia.
Terapia
Nei bambini la terapia è volta a correggere le alterazioni metaboliche ed è costituita da supplementazioni dietetiche per rimpiazzare la perdita di soluti (bicarbonati, potassio, fosforo) ed elevate dosi di vitamina D. Negli adulti la terapia consiste nella rimozione dei fattori causali.
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(Bibl. Malattie del rene e delle vie urinarie, F.P. Schiena, F.P. Selvaggi, L. Gesualdo, M. Battaglia)
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