Fanconi syndrome and chronic kidney disease in paroxysmal nocturnal hemoglobinuria: effect of eculizumab therapy

Moumas, Eric; Bridoux, Frank; Leroy, Fannie; Belmouaz, Simohamed; Randriamalala, Edouard; Desport, Éstelle; Dreyfus, Brigitte; Delbès, Sébastien; Quellard, Nathalie; Touchard, Guy

doi:10.5414/cn106989

Cited by 9 publications

(2 citation statements)

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“…In the literature, few reports describe the improvement of hemosiderin deposits in renal cortices after eculizumab treatment in detail. Some case reports showed that it took one to three years to clear hemosiderin deposits in MRI images after anti-C5 blocking therapy [11] , [12] , [13] . Based on our case and these case reports, we speculate the amount of hemosiderin deposits would be quite different among patients with PNH and need more than one year to improve.…”

Section: Discussionmentioning

confidence: 99%

Even mild hemolysis in paroxysmal nocturnal hemoglobinuria could severely compromise the quality of life due to long-term sustained intolerant fatigue

Sakai

2020

Leukemia Research Reports

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Fatigue is one of the most common symptoms associated with paroxysmal nocturnal hemoglobinuria (PNH), a rare acquired disorder of hematopoietic stem cells. While it directly impairs lifestyle leading to poor quality of life (QOL), it is not well recognized that fatigue could not depend on the disease activity or percentage of glycosylphosphatidylinositol-deficient granulocyte. We describe the case of a 78-year-old woman, with mild hemolysis and a 20-year history of severe sustained fatigue, whose QOL drastically improved with eculizumab followed by ravulizumab. We also used the novel aplastic anemia and PNH specific QOL tool to evaluate multiple statuses of the patient.

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Section: Discussionmentioning

confidence: 99%

Even mild hemolysis in paroxysmal nocturnal hemoglobinuria could severely compromise the quality of life due to long-term sustained intolerant fatigue

Sakai

2020

Leukemia Research Reports

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“…Tubular injury may also induce Fanconi's syndrome, characterized by an altered renal reabsorption of small molecules, resulting in hyper-aminoaciduria, glycosuria, hyperphosphaturia and bicarbonaturia [51,52] and in the concurrent dysfunction of distal H + secretion. Moumas et al [53] reported two cases of Fanconi's syndrome with diffuse hemosiderin inclusions within proximal tubular cells. Magnetic resonance imaging showed an abnormal kidney iron load, which was significantly reduced after treatment with Eculizumab.…”

Section: Pnh and Renal Tubulopathiesmentioning

confidence: 99%

Complement Inhibition Therapy and Dialytic Strategies in Paroxysmal Nocturnal Hemoglobinuria: The Nephrologist’s Opinion

Gembillo

Siligato

Cernaro

et al. 2020

JCM

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Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal disease that presents an estimated incidence of 1.3 cases per million per year, with a prevalence of 15.9 cases per million. It is characterized by hemolysis, bone marrow dysfunction with peripheral blood cytopenia, hypercoagulability, thrombosis, renal impairment and arterial and pulmonary hypertension. Hemolysis and subsequent hemosiderin accumulation in tubular epithelium cells induce tubular atrophy and interstitial fibrosis. The origin of PNH is the somatic mutation in the X-linked phosphatidylinositol glycan class A (PIG-A) gene located on Xp22: this condition leads to the production of clonal blood cells with a deficiency in those surface proteins that protect against the lytic action of the activated complement system. Despite the increased knowledge of this syndrome, therapies for PNH were still only experimental and symptomatic, until the introduction of the C5 complement blockade agent Eculizumab. A second generation of anti-complement agents is currently under investigation, representing future promising therapeutic strategies for patients affected by PNH. In the case of chronic hemolysis and renal iron deposition, a multidisciplinary approach should be considered to avoid or treat acute tubular injury or acute kidney injury (AKI). New promising perspectives derive from complement inhibitors and iron chelators, as well as more invasive treatments such as immunoadsorption or the use of dedicated hemodialysis filters in the presence of AKI.

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Pediatric Fanconi Syndrome

Igarashi

Emma²,

Hayes³

2022

Pediatric Nephrology

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Fanconi syndrome and chronic kidney disease in paroxysmal nocturnal hemoglobinuria: effect of eculizumab therapy

Cited by 9 publications

References 0 publications

Even mild hemolysis in paroxysmal nocturnal hemoglobinuria could severely compromise the quality of life due to long-term sustained intolerant fatigue

Even mild hemolysis in paroxysmal nocturnal hemoglobinuria could severely compromise the quality of life due to long-term sustained intolerant fatigue

Complement Inhibition Therapy and Dialytic Strategies in Paroxysmal Nocturnal Hemoglobinuria: The Nephrologist’s Opinion

Pediatric Fanconi Syndrome

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