Schwartz–Bartter syndrome
Schwartz-Bartter Syndrome (SIADH): Excess ADH leads to water retention and dilutional hyponatraemia, with low serum sodium and osmolality but inappropriately concentrated urine.
Category LITFL
Gitelman Syndrome
Gitelman Syndrome: Inherited defect in Na⁺-Cl⁻ cotransport in the distal tubule, causing hypokalaemia, alkalosis, hypomagnesaemia, and hypocalciuria—thiazide-like effect.
Liddle Syndrome
Liddle Syndrome: Monogenic hypertension due to ENaC overactivity in the collecting duct. Causes sodium retention, hypokalaemia, low renin and aldosterone—pseudo-aldosteronism.
Whipple disease
Whipple disease: rare systemic infection by Tropheryma whipplei. Explore its history, diagnosis, and treatment from 1907 discovery to present day
Guido Fanconi
Swiss paediatrician Guido Fanconi (1892–1979) defined Fanconi anaemia and Fanconi syndrome, shaping modern paediatrics and medical genetics.
George Hoyt Whipple
George Hoyt Whipple (1878–1976), Nobel winner, advanced anaemia therapy, coined thalassaemia, and described Whipple disease in 1907.
Hillel J. Gitelman
Hillel J. Gitelman (1932–2014) American nephrologist. Described Gitelman syndrome, a renal tubulopathy mimicking thiazide effect with hypokalaemia and hypomagnesaemia.
Frederic Bartter
Frederic Crosby Bartter (1914–1983) American endocrinologist. Defined Bartter syndrome, co-described SIADH, and advanced adrenal and renal physiology.
Grant Liddle
Grant Winder Liddle (1921-1989) American endocrinologist. Pioneer of endocrine diagnostics; discovered Liddle syndrome, developed suppression tests, and defined ectopic ACTH
Pablo Mirizzi
Pablo Mirizzi (1893–1964), Argentine surgeon who pioneered intraoperative cholangiography and described Mirizzi syndrome of biliary duct compression
Mirizzi syndrome
Mirizzi syndrome is a rare complication of gallstone disease involving bile duct compression or fistula formation, with evolving classifications from Mirizzi to Csendes and Beltrán
Mark Ravitch
Mark M. Ravitch, pioneering pediatric surgeon, innovator of the Ravitch procedure, stapling, intussusception care, and Cantrell’s sequence.