Paroxysmal Nocturnal Hemoglobinuria in the PICU

Nov 9, 2025

Join a thrilling discussion about a 16-year-old patient's unexpected diagnosis of paroxysmal nocturnal hemoglobinuria. The hosts break down the pathogenesis, linking mutations to clinical complications like thrombosis and hemolysis. Discover key diagnostic approaches, including flow cytometry and lab tests. Management strategies shine a light on revolutionary treatments like eculizumab. They also review this patient's recovery journey and essential PICU support principles, uncovering vital insights for recognizing this rare condition.

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ANECDOTE

Teen With CVT Diagnosed As PNH

A 16-year-old male presented with nine days of headache, photophobia, and a cerebral venous thrombosis.
Flow cytometry showed GPI-anchored protein deficiency and he improved after starting eculizumab and anticoagulation.

INSIGHT

PIG-A Mutation Explains Complement Vulnerability

PNH arises from a somatic PIG-A mutation that prevents GPI-anchor synthesis on blood cells.
Loss of GPI anchors removes CD55 and CD59, allowing uncontrolled complement-mediated intravascular hemolysis.

INSIGHT

Hemolysis Drives Paradoxical Thrombosis

Thrombosis is the most life-threatening consequence of PNH and can occur despite thrombocytopenia.
Hemolysis releases free hemoglobin and arginase, depleting nitric oxide and promoting a prothrombotic state.

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Welcome to "PICU Doc on Call," the podcast where the world of pediatric critical care comes alive! Today, Dr. Monica Gray, Dr. Pradip Kamat, and Rahul Damania delve into a fascinating case involving a 16-year-old male presenting with headache, photophobia, anemia, and cerebral venous thrombosis. After some detective work, the diagnosis? Paroxysmal nocturnal hemoglobinuria, or PNH.

Join us as we break down the pathogenesis and clinical features of PNH, walk through the diagnostic workup, and discuss management strategies, especially the game-changing role of complement inhibitors like Eculizumab. We’ll also review this patient’s clinical journey, highlighting the key pearls for recognizing and treating PNH in the pediatric intensive care unit.

So, tune in to hear more!

Show Highlights:

Clinical case presentation of a 16-year-old male with symptoms including headache, photophobia, and anemia
Diagnosis of paroxysmal nocturnal hemoglobinuria (PNH) and its clinical significance
Pathogenesis of PNH, including the role of the PIGA gene mutation and GPI-anchored proteins
Clinical features and complications associated with PNH, such as thrombosis and hemolysis
Diagnostic workup for PNH, including laboratory tests and flow cytometry
Management strategies for PNH, focusing on complement inhibitors like Eculizumab
Importance of supportive care in the PICU for patients with PNH
Discussion of emerging therapies and advancements in PNH treatment
Patient outcome and clinical course following treatment for PNH
Key takeaways regarding the diagnosis and management of PNH in pediatric intensive care

References:

Fuhrman & Zimmerman - Textbook of Pediatric Critical Care.
Reference 1: Brodsky RA. Paroxysmal nocturnal hemoglobinuria. Blood. 2014 Oct 30;124(18):2804-11.
Reference 2 Waheed A, Shammo J, Dingli D. Paroxysmal nocturnal hemoglobinuria: Review of the patient experience and treatment landscape. Blood Rev. 2024 Mar;64:101158.
Reference 3: Kokoris S, Polyviou A, Evangelidis P, Grouzi E, Valsami S, Tragiannidis K, Gialeraki A, Tsakiris DA, Gavriilaki E. Thrombosis in Paroxysmal Nocturnal Hemoglobinuria (PNH): From Pathogenesis to Treatment. Int. J. Mol. Sci. 2024 Nov 11;25(22):12104.