La sindrome nefrosica è caratterizzata da edema (volto, piedi, mani) proteinuria (>3g/die), ipoalbuminemia e frequentemente ipercolesterolemia. Alla biopsia renale si osserva un’ampia varietà di lesioni glomerulari.
Epidemiologia
Nei bambini la sindrome nefrosica è causata nel 90% dei casi da una glomerulonefrite a lesioni minime o da una glomerulosclerosi focale e segmentaria . Negli adulti la sindrome nefrosica è più frequentemente causata da una glomerulonefrite membranosa (nel 32,9% dei casi), seguita da glomerulosclerosi focale e segmentaria (12, 3 % dei casi) e dalla glomerulonefrite a lesioni minime (12% dei casi).
Eziopatogenesi
Gli agenti eziologici responsabili delle glomerulonefriti primitive sono spesso sconosciuti, mentre nelle forme secondarie sono in causa antigeni batterici, virali, protozoari ed elmintici. La sindrome nefrosica è causata da un’alterata funzione del podocita per cui i quadri clinici che ne derivano sono anche definiti podocitopatie che possono identificarsi in tre gruppi.
Il primo gruppo è caratterizzato da una conservazione numerica dei podociti che presentano alterazioni anatomiche (fusione dei podociti) e del diaframma sottile tali da causare la perdita di alcune proteine come l’albumina e la transferrina.
Nel secondo gruppo c’è una riduzione numerica dei podociti che si sono distaccati dalla membrana basale e sono andati incontro ad apoptosi accelerata .
Il terzo gruppo è caratterizzato dalla proliferazione dei podociti che può essere di lieve entità e associata ad un accumulo di matrice mesangiale o di notevole entità tale da causare un collasso della matassa glomerulare.
Sintomatologia
La triade sintomatologica (edema, proteinuria e ipoalbuminemia) caratterizza la sindrome nefrosica.
Edema: compaiono edemi in modo insidioso e brusco, prima sul viso, al mattino al risveglio, poi sulle parti declivi; variano secondo la quantità di sale nell’alimentazione, il ciclo mestruale, la somministrazione di diuretici.
Stanchezza
Pallore
Pelle secca
Ipotensione ortostatica (soprattutto nel bambino, per ipovolemia)
Il versamento pleurico, l’ascite e l’idrocele possono essere complicazioni degli edemi massicci.
Dati di laboratorio
Elevati livelli di proteine (proteinuria) nelle urine: la patologia è caratterizzata dalla perdita proteica di più di 3 grammi di proteine attraverso le urine nelle 24 ore, cioè una quantità 20 volte superiore al normale.
Protidemia inferiore a 5 g /dl. Il tracciato elettroforetico delle sieroproteine dimostra una iper-α2 -macroglobulinemia e una ipogammaglobulinemia.
Ves elevata, ipocalcemia totale senza riduzione del calcio ionizzato, iperlipidemia, caratterizzata da ipercolesterolemia e ipertrigliceridemia.
Diagnosi
La diagnosi si basa sulla sintomatologia clinica, i dati di laboratorio e il referto della biopsia renale. La sintomatologia clinica è rappresentata dall’edema nella fase iniziale fugace perché è presente solo nelle ore serali quando il paziente si accorge che l’elastico del calzino ha causato una compressione sul lato inferiore edematoso; molte volte è interessato più l’arto destro che il sinistro. L’esame obiettivo permette di individuare l’edema pretibiale mediante compressione della cute con il dito, che crea la fovea. Successivamente l’edema interessa gli arti inferiori in tutta la loro estensione sino a giungere all’edema scrotale e all’anasarca. Si può riscontrare un versamento liquido nella cavità pleurica e cardiaca. Può essere presente anche anche ipertensione arteriosa. I dati di laboratorio sono rappresentati dall’ipoproteinemia, quali ipoalbuminemia e dalla proteinuria nefrosica. In molti pazienti sono presenti alterazioni del metabolismo lipidico ipercolesterolemia, ipertrigliceridemia incremento sierico delle LDL.
Prognosi
La prognosi è subordinata alla risposta terapeutica perché le glomerulonefriti a lesioni minime che rispondono alla terapia possono non ripresentarsi nell’arco della vita. Invece, le altre forme di glomerulonefriti, che sono scarsamente sensibili al trattamento, portano a distanza di tempo a un’ insufficienza renale cronica graduale e progressiva che conduce all’uremia terminale. Pertanto, se la prognosi è buona nelle forma lesioni minime, è riservata nelle altre glomerulonefriti sia primitive che secondarie.
Terapia
L’edema generalizzato è l’espressione di una notevole ritenzione di sodio e della perdita abnorme di proteine. E’necessario invertire il bilancio negativo di sodio con la prescrizione di una rigorosa dieta iposodica,non più di 3g/die. L’assunzione di un diuretico dell’ansa (furosemide, acido etacrinico, bumetanide), in dosi anche elevate, ma strettamente controllate onde evitare effetti collaterali, che si contrapponga alla forte capacità riassorbitiva di sodio al livello del tubulo distale, a cui possono associarsi anche i tiazidici e i risparmiatori di potassio.
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