Med Quizzes

Recurrent Pediatric Sinopulmonary Infections

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Sinopulmonary Infections Cheatsheet

Key Concept: Situs inversus + bronchiectasis + sinusitis = Kartagener syndrome (PCD subtype). CF = elevated sweat Cl + pancreatic insufficiency. CVID = adult onset pan-hypogammaglobulinemia. Bruton XLA = absent B cells, boys only, presents at 6 months.

Diagnosis	Key Features
PCD	Ciliary dynein arm defect → immotile cilia Bronchiectasis + chronic sinusitis + otitis media Situs inversus in 50% (+ bronchiectasis + sinusitis = Kartagener syndrome) Male infertility (immotile sperm) Nasal nitric oxide very low (<77 nL/min) Diagnosed by TEM of cilia or gene panel Normal sweat chloride; normal pancreatic function
Cystic Fibrosis	CFTR mutation → thick viscid mucus obstructing airways + ducts Elevated sweat chloride (>60 mEq/L) = diagnostic Pancreatic insufficiency → steatorrhea, fat-soluble vitamin deficiency Meconium ileus in neonates Digital clubbing Nasal polyps NO situs inversus CFTR modulators (elexacaftor-tezacaftor-ivacaftor) for eligible mutations
CVID	Pan-hypogammaglobulinemia: IgG + IgA + IgM all low Presents in 2nd–3rd decade (not infancy) Recurrent bacterial infections + Giardia Autoimmune complications (ITP, hemolytic anemia) Granulomatous disease of lung/liver/spleen Treated with IVIG replacement therapy
Bruton XLA	X-linked agammaglobulinemia (BTK mutation) Absent circulating B cells (flow cytometry) Presents at ~6 months (as maternal antibodies wane) Absent lymph nodes and tonsils Very low all immunoglobulin classes (IgG, IgA, IgM, IgE) Recurrent encapsulated bacteria: Strep pneumo, H. flu Boys only (X-linked recessive) Treated with IVIG replacement

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Recurrent Pediatric Sinopulmonary Infections

Findings Bank

A Primary Ciliary Dyskinesia

B Cystic Fibrosis

C CVID

D Bruton XLA