Lupus Nephritis
Lupus Nephritis Shane M. Meehan, MBBCh Key Facts Terminology Systemic autoimmune disease manifested by inflammation of skin, joints, kidneys, and central nervous system IgG autoantibodies to DNA, RNA, proteins, phospholipids…
Lupus Nephritis Shane M. Meehan, MBBCh Key Facts Terminology Systemic autoimmune disease manifested by inflammation of skin, joints, kidneys, and central nervous system IgG autoantibodies to DNA, RNA, proteins, phospholipids…
Molecular Factors Index Molecular Factors Discussed Gene Gene Location Official Gene Symbol and Name Chapter Term Found ABCA3 16p13.3 ABCA3; ATP-binding cassette, sub-family A (ABC1), member 3 Congenital Surfactant Deficiency…
Testicular Torsion Jessica M. Comstock, MD Key Facts Etiology/Pathogenesis Intravaginal torsion (torsion of testis within tunica vaginalis) Predisposed by bell-clapper deformity, puberty, and cryptorchidism Extravaginal torsion (torsion of testis, tunica…
Testicular Regression Syndrome Larissa V. Furtado, MD Key Facts Terminology Vanishing testes syndrome Etiology/Pathogenesis Result from atrophy and disappearance in fetal life of an initially normal testis Clinical Issues Affects…
Vaginal Adenosis Marisa R. Nucci, MD Key Facts Terminology Müllerian-type epithelium replacing squamous mucosa or forming glands in lamina propria Etiology/Pathogenesis Prenatal exposure to diethylstilbestrol (DES) in utero Clinical Issues…
Venoocclusive Disease Sanjay Kakar, MD Key Facts Etiology/Pathogenesis Stem cell transplantation and high-dose chemotherapy Sinusoidal endothelial cell injury is important initial event Clinical Issues Hyperbilirubinemia, weight gain, and painful hepatomegaly…
Drug-Related Acute Hepatitis Sanjay Kakar, MD Key Facts Etiology/Pathogenesis 2 chief mechanisms: Intrinsic and idiosyncratic Idiosyncratic is the most common in children Herbal and botanical drugs are important but often…
Glycogen Storage Diseases Grace E. Kim, MD Key Facts Etiology/Pathogenesis Inborn error of carbohydrate metabolism caused by gene mutations in proteins involved in glycogen synthesis, degradation, or regulation Results in…
Paucity of Intrahepatic Bile Ducts (Nonsyndromic) Joseph Misdraji, MD Key Facts Terminology Heterogeneous group of disorders that cause bile duct paucity in patients without congenital abnormalities indicative of Alagille syndrome…