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Nefronoftisi familiare: Revisione della letteratura e presentazione di 4 casi della stessa famiglia

Familial nephronophthisis: Review of the literature and presentation of 4 cases of the same family

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La Ricerca in Clinica e in Laboratorio

Summary

Nephronophthisis (N) and medullary cystic disease (MCD) can occur in the same family group. In a single family of 11 children, 4 were affected by hereditary nephropathy. 2 of them died before the disease was well known and no histological diagnosis was made. Of the other 2 members, the first, at the time of observation, was in periodical dialysis and died during our study; autopsy showed a typical MCD. The second one is still living and renal biopsy showed a typical N. The other unaffected members, including the father, have no signs of kidney involvement. The clinical and histological findings are discussed and the conclusion drawn is that MCD and N may be considered a same disease.

Riassunto

La nefronoftisi (N) e la malattia cistica midollare (MCM) possono verificarsi nello stesso nucleo familiare. In una famiglia di 11 figli, 4 erano affetti da nefropatia ereditaria. 2 di essi morirono prima che la malattia fosse ben nota e non fu fatta la diagnosi istologica. Degli altri 2 membri, il primo, al momento dell’osservazione, era in dialisi periodica e morì durante il nostro studio; l’autopsia ha dimostrato una tipica MCM. Nel secondo, vivente, la biopsia renale ha messo in evidenza una tipica N. I rimanenti membri sani della famiglia, compreso il padre, non mostrano segni di malattia renale. Viene discusso il quadro clinico ed istologico, giungendo alla conclusione che la MCM e la N possono essere considerate la stessa malattia.

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  1. Istituto di Semeiotica Medica, dell’Università degli Studi di Firenze, Vide Pieraccini 18, 50139, Firenze, Italia

    Paolo T. Scarpelli, Maria G. Quarantacinque Cai, Antonio Pieri, Maurizio Salvadori & M. Cagnoni

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Scarpelli, P.T., Cai, M.G.Q., Pieri, A. et al. Nefronoftisi familiare: Revisione della letteratura e presentazione di 4 casi della stessa famiglia. La Ricerca Clin. Lab. 4, 825–870 (1974). https://doi.org/10.1007/BF03055086

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