Gene/Protein Disease Symptom Drug Enzyme Compound
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We identified 174 cases of chronic severe renal failure (blood creatinine > 650 mumol/l) and/or blood urea > 35 mmol/l) in a retrospective study of patients admitted to hospital between January 1989 and June 1996. Of these patients, 110 were men and 64 were women. The mean age was 36 +/- 15 years. Fifty three patients had a history of hypertension before admission, 3 patients had diabetes and 3 had gout. The most frequent clinical signs were dyspnea (55.2% of all patients), fatigue (78.2%), vomiting (63.2%) and edema (66.1%). The prevalence of hypertension was 64.9%. Glomerulonephritis was found in 42.5% of patients, chronic interstitial nephritis in 16.1%, polycystic kidney disease in 2 cases, congenital renal hypoplasia in 4 cases and unclassified kidney disease in 14.4% of cases. End-stage renal failure was complicated by heart failure in 40.2% of patients, pericarditis in 31.6%, hemorrhage of the gastrointestinal tract in 15% and infections in 22.4%. 47.7% of the patients died following admission.
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PMID:[Epidemiology of severe chronic renal insufficiency in Burkina Faso]. 950 95

A 46-year-old female was admitted to our hospital due to general fatigue, systemic edema and dyspnea with history of systemic sclerosis (SSc). The patient was diagnosed as mixed connective tissue disease (MCTD) based on Raynaud phenomenon, a high anti-RNP antibody level and clinical symptoms and laboratory findings suggesting SSc, dermatomyositis (DM) and systemic lupus erythematosus (SLE). After the admission, both alveolar hemorrhage and a rapidly progressive glomerulonephritis (RPGN) also developed and laboratory findings showed a positive remark of myeloperoxydase-antineutrophil cytoplasmic antibody (MPO-ANCA) and anti-glomerular basement membrane (GBM) antibody. She was therefore re-diagnosed as microscopic polyarteritis nodosa (microscopic PAN) combined with MCTD and treatment with high dose prednisolone and steroid pulse therapy dramatically improved general conditions and lung symptoms, but maintenance dialysis was persistent because of irreversible renal failure. However, 3 months after the admission, she died of acute exacerbation of interstitial pneumonitis that was unresponsive to steroid pulse therapy. Autopsy revealed interstitial pneumonitis with alveolar hemorrhage and crescentic glomerulonephritis (CrGN), in which immunofluorescent microscopy showed no deposition in agreement with pauciimmune type. The histological findings supported the diagnosis; primary microscopic PAN combined with MCTD, which is a quite rare case, to our knowledge. Furthermore, co-existence of MPO ANCA and anti-GBM antibody, clinical and histological findings of the case also lead us to reconsider the relevance of these antibodies to pathogenesis and/or categories of microscopic PAN and Goodpasture's syndrome.
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PMID:[A case of mixed connective tissue disease with microscopic polyarteritis nodosa associated with perinuclear-antineutrophil cytoplasmic antibody and anti-glomerular basement membrane]. 1061 88

We report two patients in whom hypothyroidism was considered to cause renal dysfunction. Case 1 was a 65-year-old woman who stopped taking levothyroxine sodium for hypothyroidism. After 6 months, she developed proteinuria, edema, weight gain, and renal dysfunction. Renal biopsy revealed focal segmental proliferative glomerulonephritis. After re-administration of levothyroxine sodium, thyroid function and renal function both recovered. Case 2 was a 51-year-old man who presented with edema, difficulty in swallowing, muscular weakness, and fatigue. We diagnosed hypothyroidism, and focal segmental proliferative glomerulonephritis was revealed by renal biopsy. After administration of levothyroxine sodium, his symptoms resolved and his thyroid function and renal function both improved. Our experience suggests that hypothyroidism should be taken into consideration as one of the causes of renal dysfunction.
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PMID:Two cases of hypothyroidism complicated by renal dysfunction. 1082 62

We studied a case of a 63 year old Japanese man who presented in October, 1994 with general fatigue, low grade fever, micro hematuria and leukocytosis, elevated CRP as well as liver dysfunction. A liver biopsy at that time revealed mild cholangiolitis. Six months later he was admitted because of weight loss, protein urea, and renal failure. At that time he was positive for antineutrophil cytoplasmic antibody(ANCA) with perinuclear staining patter(p-ANCA) done by indirect immunofluorescence. He was also positive for anti-myeloperoxidase antibody(MPO-ANCA) done by ELISA. A renal biopsy showed idiopathic crescentic glomerulonephritis with pauci-immune type(ICGN). Despite therapy with steroids and cyclophosphamide, which improved his subjective symptoms, his renal failure accelerated necessitating hemodialysis which he has been on for over four years. In conclusion, this patient has a rare case of ICGN that presented with liver dysfunction similar to autoimmune hepatitis. Since ANCA has been known to be associated with systemic vasculitides as well as chronic inflammatory diseases(e.g. ICGN, microscopic polyarteritis nodosa, ulcerative colitis or autoimmune liver diseases), both the crescent formation in this patient's glomeruli and cholangiolitis in his liver may have shared the common etiology related to ANCA.
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PMID:[A case of ANCA positive idiopathic crescentic glomerulonephritis initiated with fever and liver dysfunction]. 1089 76

A 57-year-old woman had been diagnosed as systemic sclerosis (SSc) with Raynaud's phenomenon, acrosclerosis and polyarthritis since 1995. She admitted to our hospital in July 1996 because of general fatigue, hemosputa and progressive renal insufficiency. On admission, the blood pressure was normal and laboratory findings showed elevation of the serum creatinin level and a high titer of the myeloperoxidase-antineutrophil cytoplasmic antibody (MPO-ANCA) (> 1000 EU). The renal biopsy revealed crescentic glomerulonephritis. Both renal insufficiency and high titers of MPO-ANCA improved remarkably after methylpredonisolone pulse therapy. This case was suggestive of elucidating the pathogenesis of SSc and MPO-ANCA related glomerulonephritis.
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PMID:[A case of myeloperoxidase-antineutrophil cytoplasmic antibody (MPO-ANCA) related glomerulonephritis associated with systemic sclerosis treated by steroid pulse therapy: a case report]. 1121 62

The efficacy of long-term interferon therapy for chronic hepatitis C infection with symptomatic mixed cryoglobulinemia has not clearly been defined. We describe a patient with chronic hepatitis C, symptomatic mixed cryoglobulinemia (cutaneous vasculitis), and membranoproliferative glomerulonephritis (MPGN) who responded clinically, biochemically, and virologically to a 1-year course of interferon therapy. Interferon side effects were minimal. Relapse occurred when interferon was discontinued, and suppressive maintenance interferon therapy was required for clinical, biochemical, and virologic remission. During the 5th year of maintenance therapy, she developed potential side effects that necessitated discontinuation of interferon treatment. After treatment stoppage, a clinical, biochemical, and virologic remission was maintained for more than 1 year. However, the potential side effects, which included eye irritation, arthralgias, myalgias, fatigue, insomnia, memory loss, and depression, persisted. Ophthalmologic, rheumatologic, and neurologic evaluations were nondiagnostic. Psychometric testing revealed dementia and mood disorder. Because the disabling symptoms persisted after 9 months, a health-related quality of life assessment was carried out with the SF-36 survey. Compared with healthy individuals and patients with chronic hepatitis C, our case had a lower health-related quality of life assessment on six out of seven scales and on four out of seven scales of the SF-36 survey, respectively. This case report indicates that long-term maintenance interferon therapy was effective in the treatment of symptomatic mixed cryoglobulinemia and its renal complications and resulted in a clinical, biochemical, and virologic sustained response. It is postulated that the side effects of long-term interferon therapy in this setting may be problematic.
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PMID:The benefit of long-term interferon alfa therapy for symptomatic mixed cryoglobulinemia (cutaneous vasculitis/membranoproliferative glomerulonephritis) associated with chronic hepatitis C infection. 1146 41

Microscopic polyangiitis (mPA) is a systemic necrotizing nongranulomatous vasculitis that affects small blood vessels. Clinical features include constitutional symptoms such as fever, anorexia, fatigue, and weight loss. Skin lesions include purpura and splinter hemorrhages, which occur in 50% of patients. Another characteristic feature is rapidly progressive glomerulonephritis, which often affects the kidneys in the early stages of the condition. Diagnosis is based on typical clinical features, biopsy, and presence of antineutrophil cytoplasmic antibodies (ANCA). This disorder tends to involve middle-aged and older persons, with a predilection for males; it is very rare in children. A 21-year-old female patient with mPA who did not respond well to treatment, required hemodialysis, developed vasculitis allergica cutis (VAC) later, and had a relatively short-term survival is reported herein.
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PMID:Crescentic glomerulonephritis requiring hemodialysis and elevated MPO-ANCA level and vasculitis allergica cutis in a 21-year-old girl. 1214 62

A Japanese girl aged 13 years with myeloperoxidase anti-neutrophil cytoplasmic antibodies(MPO-ANCA)-associated glomerulonephritis(GN) progressed to end-stage renal failure after 7 years' clinical observation. She had been suffering from recurrent disease flare associated with serum MPO-ANCA elevation(i.e. 153 EU/ml, 208 EU/ml and 358 EU/ml, maximum at each of the episodes, normal < 10 EU/ml). Each flare was treated successfully with prednisolone combined with cyclophosphamide and azathioprine. However, her renal function gradually deteriorated, and peritoneal dialysis(PD) was initiated 7 years after the onset of the disease. During the clinical course, no extrarenal manifestations were observed. Due to subsidence of the serum MPO-ANCA titer(10 EU/ml) after starting PD, prednisolone and azathioprine were tapered thereafter. Her daily urine volume was preserved at approximately 600 ml at that time. She suddenly developed fatigue with severe anemia, oliguria and hypertension 4 months after discontinuation of immunosuppressive therapy. The serum titer of MPO-ANCA increased to 100 EU/ml. These clinical observation suggests that disease flare may occur in selected patients with MPO-ANCA-associated GN, who develop end-stage renal failure requiring PD. Although recurrent flare associated with an increased serological activity in a proportion of patients with lupus nephritis who have received dialysis has been reported to date, to our knowledge, a similar clinical observation in the MPO-ANCA-associated GN has not been reported. Selected patients with the disease should be followed with close observation after undergoing dialysis.
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PMID:[A case of ANCA-associated glomerulonephritis without extrarenal symptoms with disease flare after starting dialysis]. 1221 82

We present herein the first case report of identical triplets who developed systemic lupus erythematosus (SLE). The children were diagnosed as having SLE in reverse birth order at ages 8, 9, and 11 years. Although genetically identical, each sibling manifested different clinical signs and symptoms; however, all 3 children did manifest skin rash, fatigue, and biopsy-proven glomerulonephritis at different ages. Findings of laboratory studies were similar, including positivity for antinuclear antibodies, anti-native DNA, and anti-double-stranded DNA, as well as low levels of complement. These findings confirmed SLE in each sibling.
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PMID:Triplets with systemic lupus erythematosus. 1461 80

A 52-year-old Japanese man presented with fever spikes, generalized fatigue, anorexia, and anasarca. The patient was referred for the evaluation of fever of unknown origin in association with swelling of cervical, axillary, and inguinal lymph nodes. He also manifested nephrotic syndrome, acute renal failure, hepatosplenomegaly, massive pleural effusion, ascites, disseminated intravascular coagulation, and hypergammaglobulinemia. C-reactive protein was positive and plasma vascular endothelial cell-derived growth factor (VEGF) and serum interleukin-6 levels were markedly elevated. Lymph node biopsy results showed that findings were compatible with Castleman's disease of hyaline vascular type associated with interfollicular plasmacytosis. In conjunction with the clinical findings, a diagnosis of multicentric Castleman's disease was made. The patient underwent renal biopsy because of nephrotic syndrome, and the results showed proliferation of mesangial cells, lobulation of glomeruli, and tram track pattern of the capillary wall without immune complex deposition. Electron microscopy showed widening of the subendothelial space. No electron-dense deposits were present in both mesangial and subendothelial regions. Pathologic features were compatible with glomerular microangiopathy and membranoproliferative glomerulonephritis-like lesions. With corticosteroid therapy, systemic symptoms disappeared; both VEGF and interleukin-6 levels were normalized, and he went into complete remission of nephrotic syndrome. In this article, the role VEGF plays in the pathogenesis of nephrotic syndrome and glomerular microangiopathy is discussed.
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PMID:Multicentric Castleman's disease associated with glomerular microangiopathy and MPGN-like lesion: does vascular endothelial cell-derived growth factor play causative or protective roles in renal injury? 1471 66


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