🧬 Chapter 517 · Inherited Bone Marrow Failure Syndromes with Pancytopenia

Nelson Textbook of Pediatrics 22nd Edition | Fanconi anemia (chromosomal breakage, congenital anomalies, cancer predisposition), dyskeratosis congenita (telomere shortening, mucocutaneous triad), Shwachman-Diamond syndrome (pancreatic insufficiency, neutropenia), GATA2 deficiency (monocytopenia, MDS, lymphedema), SAMD9/9L (MIRAGE syndrome), CAMT (MPL mutations), reticular dysgenesis (AK2), cartilage-hair hypoplasia (RMRP).

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📋 30 Clinical Scenarios — Inherited Bone Marrow Failure Syndromes

📇 High‑Yield Review Cards (IBMFS)

🩺 Clinical Recognition: Inherited Bone Marrow Failure Syndromes

Select a presentation for diagnostic clues and management.

📋 Stepwise Management of IBMFS

🔑 Key Principles — Nelson Chapter 517
• Fanconi anemia (FA): Chromosomal breakage test (DEB/MMC). Androgens, HSCT (reduced-intensity). Cancer surveillance.
• Dyskeratosis congenita (DC): Telomere length <1st percentile. Androgens, HSCT (high morbidity).
• Shwachman-Diamond (SDS): Pancreatic insufficiency (low trypsinogen), neutropenia. G-CSF, HSCT.
• GATA2 deficiency: Monocytopenia, MDS, lymphedema. HSCT.
• CAMT: MPL mutations, absent megakaryocytes → HSCT.
• HSCT is the only curative therapy for severe bone marrow failure in most IBMFS.

    ⚡ Reflex Prompts — Clinical Decisions in IBMFS

    📖 Summary: Inherited Bone Marrow Failure Syndromes — Nelson Ch 517