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VEXAS Syndrome

Overview VEXAS syndrome is a late-onset, adult autoinflammatory disease caused by acquired somatic mutations in the UBA1 gene, leading to dysregulated innate immunity, systemic inflammation, and overlapping haematologic and rheumatologic manifestations.  VEXAS stands for Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic. It predominantly affects older males due to its X-linked nature and typically presents with refractory…

Sjögren’s-Associated Interstitial Lung Disease 

Overview Sjögren’s-associated interstitial lung disease (Sjögren’s-ILD) is a significant extra-glandular manifestation of primary Sjögren’s disease (pSS), occurring in ~9–20% of patients clinically, with subclinical involvement detectable in up to 50% on HRCT. It may precede sicca symptoms or develop late in the disease course. The most common ILD pattern is nonspecific interstitial pneumonia (NSIP), followed…

Polycystic Kidney Disease

Overview The polycystic kidney diseases are among the most common life-threatening inherited diseases worldwide and frequently cause kidney failure. Autosomal dominant polycystic kidney disease (ADPKD) is seen predominantly in adults, whereas autosomal recessive polycystic kidney disease (ARPKD) is mainly a disease of childhood. For ADPKD, screening asymptomatic at-risk adults with a family history by ultrasound…

Spondylarthropathy

Overview  The spondyloarthropathies are a diverse group of inflammatory arthritides that share certain genetic predisposing factors and clinical features. Their most characteristic feature is inflammatory back pain. Enthesitis, another characteristic feature, involves inflammation at sites where tendons, ligaments, or joint capsules attach to bone. Features of Spondylarthropathy Sacroiliac and spinal (axial involvement) Enthesitis at long attachments…

Critical Limb Ischaemia

Overview Critical limb ischaemia (CLI) represents grade III and IV chronic limb ischaemia (based on the Fontaine classification). It presents with rest pain, breakdown of skin and inability to heal an injury, which can lead to infection or gangrene. If left untreated it may be necessary to amputate the affected limb. CLI develops in 1%…

Paediatric Respiratory Distress Syndrome

Overview Respiratory distress syndrome (RDS) also known as hyaline membrane disease is a pulmonary disease resulting from immature lung development and surfactant deficiency. Most frequently seen in preterm infants, the clinical presentation is characterized by signs of respiratory distress including nasal flaring, tachypnea, and grunting (an expiratory sound that is heard as the infant exhales…

Asthma (Adults)

Clinical features of asthma such as dyspnoea, chest tightness and wheezing can mimic other respiratory conditions. It is important to take a careful history and examination and ideally demonstrate reversible airflow obstruction. Other clinical features of asthma arise during periods of bronchoconstriction (ie. exercise, smoking, stress, cold air). Exacerbation of asthma confounds the breathing difficulty, cough and wheeze in patients.

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