ABSTRACT
Mitochondrial renal disease is one of the important causes of end-stage renal disease in children and its incidence may be underestimated. We here describe the case of a 13-year-old girl who was diagnosed with mitochondrial disease (MD) accompanied by IgA nephropathy (IgAN). She presented with persistent proteinuria, short stature, and hearing defect, and her younger sister had the same symptoms. Renal biopsy indicated mild focal segmental mesangial proliferation with dominant mesangial IgA deposition on immunofluorescence. Electron microscopy showed marked proliferation of abnormal mitochondria in the proximal tubular cells. Enzyme activity of the mitochondrial respiratory chain complex I and IV in cultured skin fibroblasts was significantly decreased. This case indicated the possible co-occurrence of IgAN and MD. Underlying MD should be considered in patients with urine abnormalities, especially in those with multiple organ involvement.
Subject(s)
Glomerulonephritis, IGA/etiology , Mitochondrial Diseases/complications , Adolescent , Angiotensin II Type 1 Receptor Blockers/therapeutic use , Angiotensin-Converting Enzyme Inhibitors/therapeutic use , Biopsy , Biphenyl Compounds/therapeutic use , Enalapril/therapeutic use , Female , Fluorescent Antibody Technique, Indirect , Glomerulonephritis, IGA/diagnosis , Glomerulonephritis, IGA/drug therapy , Humans , Irbesartan , Kidney Tubules, Proximal/pathology , Microscopy, Electron , Mitochondria/pathology , Mitochondrial Diseases/diagnosis , Mitochondrial Diseases/drug therapy , Tetrazoles/therapeutic useABSTRACT
An 80-year-old woman was admitted with cardiogenic shock; she arrived in a deep coma with systolic blood pressure of 44 mmHg. An electrocardiogram showed ST elevation in I, aVL, V5 and V6, suggesting myocardial infarction in the lateral area of the left ventricle. A chest roentgenogram showed right pulmonary edema without cardiomegaly. Transthoracic and transesophageal echocardiograms revealed severe mitral regurgitation and a flailing anterior mitral valve leaflet, suggesting a ruptured papillary muscle. The patient was initially treated with high-dose dopamine, dobutamine and norepinephrine. Intraaortic balloon pumping was initiated after the patient's condition stabilized. She underwent emergency mitral valve replacement with a prosthetic valve. Complete rupture of the anterior papillary muscle was confirmed. Histological examination revealed necrosis of the anterior papillary muscle with inflammatory changes. She recovered uneventfully. Postoperative coronary angiography demonstrated subtotal occlusion of the first diagonal branch, and left ventriculography demonstrated akinesis of the lateral segment. This was a rare case in which subtotal occlusion of the first diagonal branch caused rupture of an anterior papillary muscle leading to severe mitral regurgitation.
