Renal biopsy in paroxysmal nocturnal hemoglobinuria: An insight into the spectrum of morphologic changes

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired, potentially life-threatening disease of blood, characterized by complement-induced intravascular hemolytic anemia and thrombosis. PNH can sometimes present directly with renal manifestations, without showing any hematological manifestation. It, therefore, becomes essential for clinicians and pathologists to be aware of the spectrum of renal changes in PNH. The aim of this study was to document the morphologic changes observed in renal biopsies in patients with PNH. This is an observational study. We report three cases that presented with acute or chronic renal insufficiency and were suspected as PNH on viewing their renal biopsy in light of their clinical and laboratory details. All the three cases were confirmed as PNH on the basis of flow cytometric analysis of CD55 and CD59. Renal biopsy in these patients showed a variety of morphologic changes, however the most consistent finding was moderate-to-heavy siderosis in their kidneys. PNH per se may be difficult to diagnose clinically and sometimes present directly with renal manifestations. It is, therefore, prudent for nephrologists and nephropathologists to be aware of the spectrum of renal changes in PNH.

Efficacy and Safety of Eculizumab in Enteroaggregative E. coli Associated Hemolytic Uremic Syndrome

“…Complement-mediated hemolysis is seen with paraoxysmal nocturnal hemoglobinuria (PNH), cold agglutinin disease, paraoxysmal cold hemoglobinuria, and some types of warm antibody autoimmune hemolytic anemias [ 27 ]. PNH is an important rare cause of complement-induced intravascular hemolytic anemia and may present with thrombotic manifestations; renal injury is unlikely although rare cases of concurrent renal injury have been described [ 28 ]. Hemosiderin deposition in the renal tubular cells is the most consistent histological finding in patients with PNH and renal injury [ 28 ].…”

“…PNH is an important rare cause of complement-induced intravascular hemolytic anemia and may present with thrombotic manifestations; renal injury is unlikely although rare cases of concurrent renal injury have been described [ 28 ]. Hemosiderin deposition in the renal tubular cells is the most consistent histological finding in patients with PNH and renal injury [ 28 ]. PNH is due to the deficiency of glycosyl phosphatidylinositol (GPI)-anchored complement regulatory proteins such as CD55 and CD59.…”

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

“…Acute kidney injury (AKI) secondary to endogenous compounds such as heme may be diagnosed from a wide spectrum of lesions at renal biopsy, ranging from loss of the brush border, cytoplasmic vacuolation and cellular swelling to the extensive necrosis of tubular cells. Regenerative changes such as flattening of the lining, cytoplasmic basophilia, a higher nuclear-to-cytoplasmic ratio in individual cells, and cellular mitoses can also be detected [58]. Electron microscopy underlines the loss of proximal tubular brush borders and shows diminished infoldings at the basolateral membrane of proximal tubular epithelial cells (PTECs) [59].…”

A case report on clinical features, diagnosis, and treatment of rhino‐orbito‐cerebral mucormycosis

“…Patients may develop high fever, periorbital pain, exophthalmos, limited eye movement, decreased vision, cranial nerve involvement, and even disturbance of consciousness if the infection invades orbital and intracranial regions 2 . In 1885, Paltauf reported the first case of human mucormycosis, 3 with an annual incidence rate of up to 1.2 per million people 4 . Mucor is widespread in the natural environment and can infect susceptible hosts through inhalation of Mucor spores, ingestion of contaminated food, or skin injury 5 .…”

“…2 In 1885, Paltauf reported the first case of human mucormycosis, 3 with an annual incidence rate of up to 1.2 per million people. 4 Mucor is widespread in the natural environment and can infect susceptible hosts through inhalation of Mucor spores, ingestion of contaminated food, or skin injury. 5 In ophthalmology, fungal infections of the nose, orbit and brain are relatively rare.…”