Nephrology Crossword: Genetics and glomerulopathies

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ACROSS 3. Monoclonal antibody used in the treatment of atypical hemolytic uremic syndrome, a disorder caused by mutations in regulatory components of complement system. 5. Protein originally identified in lymphocytes but also critical in slit diaphragm structure and assembly; mutations in encoding gene result in proteinuric renal disease and foot process effacement (abbv). 7. Syndrome of isolated glomerular hematuria caused by mutations in type IV collagen (abbv). 9. First ion channel to be implicated in hereditary nephrotic syndrome and focal segmental glomerulosclerosis (FSGS); mutation results in increased calcium influx, which disrupts podocyte structure and function (abbv). 10. Gene critical for normal embryonic development of the urogenital system and kidneys; mutation results in nephrotic syndrome, urogenital anomalies, and predisposition to urogenital tumors (abbv). 11. Transmembrane protein critical to slit diaphragm structure and podocyte function; mutations in encoding gene cause congenital nephrotic syndrome of Finnish type. 15. Distinct clinical syndrome of hematuria, proteinuria, sensorineural deafness, and ocular abnormality caused by mutations in type 4 collagen family. 16. Gene encoding glomerular basement membrane (GBM) protein laminin b2; mutation results in clinical syndrome of ocular defects (microcoria), neurological abnormalities, and mesangial sclerosis with onset shortly after birth (abbv). 17. Gene identified to confer additional risk for FSGS and glomerulosclerosis from secondary causes in African Americans (abbv). DOWN 1. Mutation in encoded protein __ results in dysregulation of cross-linking of actin filaments in podocyte foot processes and presents as FSGS. 2. Mutation in the encoding gene results in __ enzyme deficiency and accumulation of glycol-sphingolipids, presents as renal failure in the third to sixth decade. 4. Gene critical in dorsoventral patterning of the vertebrae limb; mutations cause nail patella syndrome (abbv). 6. Recently identified mutation that results in hemolytic uremic syndrome without complement activation, suggesting alternate pathophysiological mechanisms1 (abbv). 8. __ deficiency causes abnormalities of lipid metabolism and proteinuric kidney disease with foamy appearance of GBM secondary to lipid deposition (abbv). 12. Hairpin-shaped protein of podocytes; mutation results in malfunction of slit diaphragm and steroid-resistant nephrotic syndrome in children. 13. Mutation in this gene results in defective podocyte development, diffuse mesangial sclerosis, and infantile nephrotic syndrome (abbv). 14. Mutation in this formin gene causes mislocalization of encoded protein, resulting in FSGS in early adolescence to adulthood (abbv). http://www.kidney-international.org m a k e y o u r d i a g n o s i s