Discover published sets by community

Genetic cause: mutations in CLCN5 or OCRL genes; Symptoms: hypercalciuria, nephrolithiasis, renal phosphate loss; Diagnosis: urine and blood tests, genetic testing; Management: increased fluid intake, thiazide diuretics, potassium citrate.

Genetic cause: mutations in COL4A3, COL4A4, or COL4A5 genes; Symptoms: hematuria, progressive kidney failure, hearing loss; Diagnosis: kidney biopsy, genetic testing, hearing tests; Management: ACE inhibitors, hearing aids, potentially kidney transplantation.

Genetic cause: mutations in GLA gene; Symptoms: acroparesthesias, angiokeratomas, renal insufficiency; Diagnosis: enzyme assay, genetic testing; Management: enzyme replacement therapy, pain management, kidney transplantation.

Genetic cause: mutations in various genes affecting salt reabsorption in the kidney; Symptoms: polyuria, hypokalemia, metabolic alkalosis; Diagnosis: blood and urine tests, genetic testing; Management: potassium and magnesium supplements, ACE inhibitors, prostaglandin inhibitors.

Genetic cause: mutations in SLC3A1 and SLC7A9 genes; Symptoms: recurrent nephrolithiasis, hematuria, possible kidney obstruction; Diagnosis: urinary cyanide-nitroprusside test, genetic testing; Management: increased fluid intake, chelating agents, shock wave lithotripsy.

Genetic cause: mutations in AGXT, GRHPR, or HOGA1 genes; Symptoms: recurrent kidney stones, nephrocalcinosis, chronic kidney disease; Diagnosis: measurement of oxalate in urine and plasma, genetic testing; Management: hydration, pyridoxine supplementation, kidney and/or liver transplantation.

Genetic cause: mutations in PKD1 or PKD2 genes; Symptoms: flank pain, hematuria, hypertension; Diagnosis: ultrasound imaging, genetic testing; Management: blood pressure control, pain management, lifestyle changes, potentially dialysis or transplantation.

Genetic cause: mutations in NPHP genes; Symptoms: polyuria, polydipsia, anemia, progression to end-stage renal disease; Diagnosis: kidney ultrasound, genetic testing, urine concentration test; Management: management of symptoms, dialysis, kidney transplantation.

Genetic cause: mutations in SLC12A3 gene; Symptoms: muscle weakness, tetany, hypomagnesemia; Diagnosis: blood and urine tests, genetic testing; Management: magnesium, potassium, and calcium supplements.