A case of acquired partial lipodystrophy (Barraquer-Simons syndrome) in a 41-year-old Filipino woman

Acquired partial lipodystrophy, also known as Barraquer-Simons syndrome, is a rare disease characterized by progressive atrophy of adipose tissue primarily on the face, leading to a gaunt appearance. Usually manifesting in childhood and in women, the evolution of fat loss occurs in a cephalocaudad manner. The lower extremities are spared and may present with paradoxical hypertrophy. Common findings are C3 hypocomplementemia and positive C3 nephritic factor (C3Nef) but the pathogenesis remains unknown. The prognosis depends on presence of co-morbidities such as membranoproliferative glomerulonephritis. We report a 41-year-old woman who presented with a 23 year history of progressive fat atrophy on the face, trunk, and upper extremities with no skin changes or other symptoms. Subsequently, a three-year history of fat hypertrophy in both lower extremities was noted. Histopathologic findings and decreased C3 ultimately led to a diagnosis of acquired partial lipodystrophy. A thorough approach to this case is reported, along with a review of current literature on pathogenetic mechanisms suspected in the disease. Amongst the lipodystrophy syndromes, acquired partial lipodystrophy portends a relatively good prognosis. However, the cosmetic disfigurement and risk for membranoproliferative glomerulonephritis necessitate a multidisciplinary form of supportive management from a medical, surgical, and psychological point of view. With watchful supportive therapy, patients may lead normal, fulfilling lives.

Pathology of C3 Glomerulonephritis

C3 glomerulonephritis (C3GN) is a recently described entity that shows a glomerulonephritis on light microscopy, bright C3 staining and the absence of C1q, C4, and immunoglobulins on immunofluorescence microscopy and mesangial and/or subendothelial electron-dense deposits on electron microscopy. The term 'C3 glomerulopathy' is often used to include C3GN and dense deposit disease (DDD), CFHR5 nephropathy, those of which result from dysregulation of the alternative pathway of complement. C3GN shares some aspects of atypical hemolytic uremic syndrome, MPGN, late stage of post infectious glomerulonephritis and other glomerulonephrtis. When C3GN is considered, measurement of serum complement proteins including C3, CFH, CFI, CFB and testing for the presence of C3 nephritic factor, anti-factor H autoantibodies are necessary. To screening for mutations, genes that encode complement regulators should be evaluated. This disorder equally affected all ages, both genders, and typically presented with hematuria and proteinuria. In both the short and long term, renal function remained stable in the majority of patients.

A Case of Postinfectious Glomerulonephritis Following Meningococcal Meningitis / 대한신장학회잡지

A 21-year-old male was presented with sudden headache, fever, petechiae and neck stiffness. The diagnosis of meningococcal meningitis was confirmed by examination of cerebrospinal fluid. The clinical symptoms of the illness were improved after treatment of antibiotics. However the patient developed generalized edema, oliguria, azotemia, and heavy proteinuria in the recovery phase of illness. Low serum C3 level was also noted. A kidney biopsy was performed and showed the features of postinfectious glomerulonephritis and typical subepithelial humps on electron-microscopic examination. His symptoms and laboratory findings were improved, and C3 level returned to normal range after conservative treatment. We suggest that a complement deficiency should be ruled out in patients of glomerulonephritis developed during the recovery phase of meningococcal meningitis. C3 nephritic factor detection and renal biopsy should be carefully considered in these patients.

Ativaçäo do sistema complemento: estudo em 100 crianças portadoras de glomerulonefrite aguda pós-infecciosa (GNAPI) / Activation of the complement system: study in 100 children with acute post infections glomerulonephritis

Em 100 crianças portadoras de glomerulonefrite aguda pós-infecciosa (GNAPI) foram analisados os níveis séricos de C3, C4 e CH50. Durante as primeiras quatro semanas de evoluçäo demonstraram-se níveis séricos inferiores ao normal em todas as 97 determinaçöes de C3 (X =34,8 + ou - 13,2 mg/dl 0 - 2 semanas e 48,2 + ou - 18,2 mg/dl 2 - 4 semanas) e em 38 de 98 determinaçöes de C4 (X = 24,3 + ou - 11,6 mg/dl 0 - 2 semanas e 30,1 + ou - 12,5 mg/dl 2 - 4 semanas). A maioria das determinaçöes realizadas pós quatro semanas de evoluçäo demonstrou níveis séricos normais de C3, C4 e CH50. Houve predomínio da via alternativa (60%) em relaçäo à clássica (40%), independente do sexo e foco infeccioso. Os autores discutem a ativaçäo do sistema complemento em GNAPI