🧬 Section 517 · Shwachman-Diamond Syndrome (SDS)

Nelson Textbook of Pediatrics 22nd Edition | Shwachman-Diamond syndrome: inherited bone marrow failure syndrome with exocrine pancreatic insufficiency, neutropenia, and metaphyseal dysplasia. Most common gene mutation: SBDS (80-90%). High risk of MDS/AML (monosomy 7). Treatment: pancreatic enzyme replacement, G-CSF for neutropenia, HSCT for marrow failure/MDS.

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πŸ“‹ 30 Clinical Scenarios β€” Shwachman-Diamond Syndrome

πŸ“‡ High‑Yield Review Cards (Shwachman-Diamond Syndrome)

🩺 Clinical Recognition: Shwachman-Diamond Syndrome

Select a presentation for diagnostic clues and management.

πŸ“‹ Stepwise Management of Shwachman-Diamond Syndrome

πŸ”‘ Key Principles β€” Nelson Chapter 517 (SDS)
β€’ Diagnosis: Clinical triad (exocrine pancreatic insufficiency, neutropenia, metaphyseal dysplasia) + genetic testing (SBDS, DNAJC21, EFL1, SRP54).
β€’ Pancreatic insufficiency: Pancreatic enzyme replacement (lipase 1000-2000 U/kg/meal), fat-soluble vitamins (A, D, E, K).
β€’ Neutropenia: G-CSF (5-10 mcg/kg/day) for severe neutropenia with recurrent infections.
β€’ MDS/AML risk: ~25% by age 18 (monosomy 7, i(7q)). HSCT for severe marrow failure/MDS.
β€’ HSCT: Reduced-intensity conditioning due to organ dysfunction (liver, cardiac).

    ⚑ Reflex Prompts β€” Clinical Decisions in SDS

    πŸ“– Summary: Shwachman-Diamond Syndrome β€” Nelson Section 517