Marzo Aprile 2022

Lymphocytic leukopenia in two patients affected by polycystic kidney disease waiting for renal transplantation

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, responsible for 10% of patients on renal replacement therapy. The disease is well known to be associated with many extrarenal manifestations. Leukopenia may also be present, even if it is not commonly identified as a typical extrarenal manifestation.

Herein we describe two case reports of ADPKD patients with leukopenia. The first case is about a 47-year-old patient affected by ADPKD, regularly treated with peritoneal dialysis, who showed a progressive reduction of white blood cell count, mostly of lymphocytes. Lymphocytic leukopenia was so severe that, when he was called for transplantation from a deceased donor, he was considered temporarily not eligible. We then describe a second ADPKD patient regularly treated with peritoneal dialysis, who had stable lymphopenia for years. Six years after starting PD, it was necessary to perform bone marrow aspirate to investigate the simultaneous presence of hypogammaglobulinemia together with M-protein and to exclude monoclonal gammopathy.

All the exams performed did not show any significant results, the patients were re-included in the waiting list and one of them was transplanted. Given our experience and what is reported in the literature, there seems to be enough evidence to consider leukopenia as an extrarenal manifestation of ADPKD.

However, the clinical significance of leukopenia in ADPKD patients is not known. It could be interesting to investigate the leucocytes’ function and if ADPKD patients with leukopenia are more susceptible to infection, or not. Moreover, it would be very useful to analyze the relationship between such manifestation and genotype/phenotype.

Keywords: ADPKD, lymphopenia, leukopenia, kidney transplant, chronic kidney disease

Sorry, this entry is only available in Italian. For the sake of viewer convenience, the content is shown below in the alternative language. You may click the link to switch the active language.

Introduzione

La malattia del rene policistico (ADPKD) è la malattia genetica renale più comune nei pazienti affetti da insufficienza renale cronica (IRC), presente nel 10% dei pazienti in terapia sostitutiva renale [1]. I geni principalmente implicati sono PKD1 e PKD2 responsabili della malattia nel 72-75% e nel 15-18% dei casi rispettivamente, mentre il 7-10% dei casi restano geneticamente irrisolti (GUR). La patologia è associata a una grande variabilità fenotipica inter ed intra-familiare, perlopiù legata alla estrema variabilità genetica [1].

La progressione della patologia è caratterizzata dallo sviluppo ed espansione inesorabile di cisti nel parenchima renale, causa della progressiva perdita di funzione renale e della conseguente insufficienza renale cronica terminale, che solitamente avviene intorno alla quinta-sesta decade di vita. La malattia è tipicamente caratterizzata da manifestazioni extra-renali quali l’ipertensione arteriosa, le cisti epatiche e pancreatiche, gli aneurismi cerebrali, la diverticolosi del colon e il prolasso delle valvola mitrale [2].

 

La visualizzazione dell’intero documento è riservata a Soci attivi, devi essere registrato e aver eseguito la Login con utente e password.