Paroxysmal nocturnal hemoglobinuria: a singleSpanish center's experience over the last 40 yr

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal disease. To date, many reviews and series have been described. We report the experience of our center by presenting a review of 56 PNH patient cases with an average age at diagnosis of 38 yr and follow-ups beginning at approximately 40 yr; the median survival rate was 11 yr. The average clonal size upon diagnosis was 48%, presenting a variable evolution. Thrombotic episodes and cancer were five each, and the main causes of death among our patients were equal at 8.9%. Radiological study by magnetic resonance imaging is presented as a fundamental technique for estimating the deposit of iron levels in the liver and kidney, as well as in some decisive cases at the start of eculizumab therapy. Sixteen patients have been treated with eculizumab so far in our series, and being a safe drug, it provides improvement in the patients’ quality of life, and the disappearance of clinical symptoms, and avoids the emergence of new thrombosis.

Renal involvement in paroxysmal nocturnal hemoglobinuria: an update on clinical features, pathophysiology and treatment

“…Renal insufficiency (CKD stages 3-5) was observed in approximately 21% of PNH patients [2]. These data are in accordance with other similar studies in the field [3][4][5]. Renal failure has been implicated as the leading cause of death in 8-18% of the disease's population [3].…”

“…In PNH, 21% of patients develop CKD (stages [3][4][5]. In contrast to the general population, age did not contribute to the development of CKD in PNH patients.…”

“…To our knowledge, available data in the current literature regarding renal replacement therapy in patients with end-stage renal disease due to PNH are limited. Munoz-Linares et al [5] reported that in a study conducted in a single Spanish center 3 out of 30 patients presented with severe renal insufficiency (estimated GFR < 15 ml/minute) and were in need of hemodialysis. Fanconi syndrome is another important finding in PNH patients, caused by proximal tubular defects and CKD.…”

Diagnosis and management of PNH: Review and recommendations from a Belgian expert panel

“…Renal insufficiency occurs in 44% of the classic PNH patients, in 10% of the patients with PNH in the setting of another bone marrow disorder (PNH/SABMD) and in 14% of subclinical PNH patients. 46 Eighteen per cent of these patients had severe renal insufficiency and required dialysis. 47 Of note, impaired renal function independently predicts mortality in PNH patients.…”

Extravascular hemolysis and complement consumption in Paroxysmal Nocturnal Hemoglobinuria patients undergoing eculizumab treatment

“…The study group included 12 patients who were diagnosed of having PNH using flow cytometry techniques, as reported previously. (Munoz-Linares, et al, 2014) The average age of the patients was 48 years. Eleven were classified as classic-PNH and one as aplasia anemia-PNH, according to the classification of Nakakuma as amended by Parker.…”