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ABIM Nep Inherited Diseases

EM basket weave pattern w thick and thin areas of GBM? Alport Syndrome. Very early in disease, uniform thinning noted.
Diagnosis of Alport Syn is confirmed by ____ EM pattern of basketweaving; IF shows abnormal collagen but variable depending on inheritance
Normal adult bowman’s capsule stains for what collagen chains? alpha-3, -4, and -5
Alport bowman’s capsule stains for what collagen chains? alpha-5, -5, and -6
Linear staining of GBM and bowman capsules by alpha-5 collagen? Can be normal! Also seen w thin basement membrane disease. May also stain distal tubule in linear fashion. Same staining patient w alpha-3.
Alport heterozygous carries have GBM on IF stain for collagen ___. alpha-5 and alpha-3
Alport patients have bowman’s capsule on IF stain for collagen ___. no staining for either alpha-5 and alpha-3
Thin basement membrane clinical picture. hematuria w/o proteinuria. DDX Alport. LM nl;IF stains reveal all alpha-3 (no -4 or -5)
Gene associated with Thin basement membrane? COL4A3 or COL4A4
Describe PKD dx based on # cysts required. 15-39 need >3 cysts total; 40-59 need 2 or more cysts each kidney; over 40 need 4 or more cysts per kidney
T/F mutated proteins in APKD are located on kidney cilia. TRUE. polycistin-1, -2 and -3
CRISP study described height adjusted kidney volume of ____ predicts risk of developing CKDIII and beyond. 600 cm3/m. considered most sensitive marker of progression. GFR fall not seen until volume > 1500.
Goal therapies in APKD? BP <120/80, 3.5 liters/day fluid, 2 gram Na/day, follow MRI q2yrs, statin
Management of bleeding cysts from APKD: epsilon amino caproic acid (EACA), aprotinin, DDAVP
Most useful test to detect infected APKD cysts? PET-CT
Recommendations for Intracranial aneurysm (ICA) screening in APKD perform if have family or personal hx or prior to surgery/txp (?), high risk occupation,. Screen every 3-5 yrs until mid 40s.
What drugs should be avoided in APKD? SSRIs and TCA release or potentiate effect of vasopressin! ? Caffeine.
Created by: ka1usg