Type III Hyperlipoproteinemia

Jul 7, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Type III Hyperlipoproteinemia

Type III Hyperlipoproteinemia Helen Liapis, MD Joseph Gaut, MD, PhD Key Facts Etiology/Pathogenesis APOE2 homozygotes Autosomal recessive Clinical Issues Males more commonly affected Nephrotic syndrome Premature vascular disease Palmar and…

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Gaucher Glomerulopathy

Jul 7, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Gaucher Glomerulopathy

Gaucher Glomerulopathy A. Brad Farris, III, MD Key Facts Terminology Gaucher cells accumulate in renal parenchyma Etiology/Pathogenesis Glucosylceramide accumulation 2° to ↓ glucosylceramidase activity Clinical Issues Proteinuria, hematuria, nephrotic syndrome…

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Lipoprotein Glomerulopathy

Jul 7, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Lipoprotein Glomerulopathy

Lipoprotein Glomerulopathy Helen Liapis, MD Joseph Gaut, MD, PhD Key Facts Etiology/Pathogenesis APOE gene mutations Clinical Issues Majority of cases reported in patients of Asian ancestry Microscopic Pathology Glomerular intracapillary…

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Fibronectin Glomerulopathy

Jul 7, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Fibronectin Glomerulopathy

Fibronectin Glomerulopathy Neeraja Kambham, MD Key Facts Terminology Nonimmune lobular glomerulopathy with massive mesangial and subendothelial fibronectin deposits Etiology/Pathogenesis Autosomal dominant inheritance Mutations in fibronectin FN1 gene documented recently in…

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Nail-Patella Synorome

Jul 7, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Nail-Patella Synorome

Nail-Patella Synorome Helen Liapis, MD Joseph Gaut, MD, PhD Key Facts Etiology/Pathogenesis LMX1B mutations Clinical Issues Iliac horns are pathognomonic (70% of cases) Absent, hypoplastic, or dystrophic nails Small, irregularly…

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