What is Nephrology - What are some of the familial diseases in which the kidneys play a role?6/7/2022 What is Nephrology - What are some of the familial diseases in which the kidneys play a role?
• Autosomal dominant PKD (ADPKD) is a type of autosomal dominant PKD (chromosomes 4 and 16) • Autosomal dominant PKD (ADPKD) is a type of autosomal dominant PKD (chromosomes 4 and 16) • PKD is inherited in an autosomal recessive pattern (linked to chromosome 6) • Autosomal dominant tubulointerstitial kidney disease (formerly known as familial juvenile hyperuricemic nephropathy type 1, medullary cystic kidney disease type 2, or uromodulin-associated kidney disease, connected to chromosomes 1, 16, 17, and chromosomes 1, 16, 17) • Focal segmental glomerulosclerosis (FSG) is a kind of glomerulosclerosis that affects (linked to chromosomes 1, 9, 10, 11, 19) • Fabry disease • Alport syndrome • Sickle cell nephropathy • Familial hypercalcemic hypocalciuria • Cystinuria • Hypertension • Diabetes mellitus • Fabry disease • Alport syndrome • Sickle cell nephropathy • Familial hypercalcemic hypocalciuria • HDR syndrome (hypoparathyroidism, sensorineural hearing loss, and renal disease syndrome; sometimes known as Barakat syndrome; chromosome 10p) • Liddle syndromes of apparent mineralocorticoid excess and other monogenic hypertension • Bartter and Gitelman syndromes of apparent mineralocorticoid excess and other monogenic hypertension • Nephrotic syndrome (congenital) (Finish and other variants, mapped to chromosomes 1, 3, 11, 19)
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