Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report an 18 year old black woman who presented with nephrotic syndrome in whom the investigations led to the diagnosis of diffuse Takayasu's disease, renal amyloidosis of AA type and interstitial lung disease. Proteinuria in Takayasu's disease is usually ascribed to hypertension or more rarely to glomerulonephritis. This case suggests that amyloidosis should be considered also in the investigation of proteinuria in these patients in view of the serious prognostic implications. This case represents further evidence that Takayasu's disease can be the cause of systemic reactive amyloidosis which may also be the presenting feature.
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PMID:Takayasu's disease presenting as a nephrotic syndrome due to amyloidosis. 791 68

Two families with hereditary renal amyloidosis were found to have a novel mutation in the fibrinogen A alpha chain gene. This form of amyloidosis is an autosomal dominant condition characterized by proteinuria, hypertension, and subsequent azotemia. DNAs of patients with amyloidosis were screened for a polymorphism in fibrinogen A alpha chain gene by single-strand conformation polymorphism analysis, and affected individuals from two kindreds were found to have a mutation. Both of these kindreds are American of Irish descent presenting with non-neuropathic, nephropathic amyloidosis in the fifth to the seventh decade of life. DNA sequencing showed a point mutation in the fibrinogen A alpha chain gene that is responsible for substitution of valine for glutamic acid at position 526. By restriction fragment length polymorphism analysis, 7 affected individuals and 14 asymptomatic individuals in these two kindreds were positive for the fibrinogen A alpha chain Val 526 gene. Fibrinogen was isolated from plasma of a heterozygous gene carrier and shown to contain approximately 50% variant fibrinogen. Discovery of this new mutation confirms the association between fibrinogen A alpha chain variant and hereditary renal amyloidosis and establishes a new biochemical subtype of amyloidosis.
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PMID:Hereditary renal amyloidosis with a novel variant fibrinogen. 811 8

Hereditary amyloidosis of an unusual form has been reported in two separate kindreds; one was Polish-Canadian and the other was Irish-American (Am J Med 1975; 59:121 and Trans Assoc Am Physicians 1981; 94:211). In both kindreds, affected members developed hypertension and nephrotic syndrome due to amyloidosis in their forties or fifties, but the genetic background responsible for the condition has been left undetermined. To identify the genetic defect in these kindreds, a portion of exon 5 of the fibrinogen alpha-chain gene in members of these kindreds was examined for a mutation by single-strand conformation polymorphism analysis and direct DNA sequencing. DNA analyses revealed an A-->T transversion at the second base of codon 526 of the fibrinogen alpha-chain gene in both of these kindreds. Analysis of DNA polymorphisms in the fibrinogen alpha-chain gene locus (TCTT repeat in intron 3, Rsal site in exon 5, and Taql site in the 3' flanking region of the gene) showed the haplotype B5-Rsal(+)-Taql(-) for the Val 526 mutant gene in both kindreds studied here, as well as in two kindreds previously described (J Clin Invest 1994; 93:731). The fibrinogen alpha-chain gene mutation (Val 526) is the genetic defect responsible for hereditary renal amyloidosis in these two kindreds, and the mutant genes in the Val 526 kindreds may have been derived from a single founder.
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PMID:The molecular basis of renal amyloidosis in Irish-American and Polish-Canadian kindreds. 894 30

We studied a group of 59 patients with renal amyloidosis. Mean age (45 male, 14 female) was 33.05+/-13.04 years. All of the cases had secondary amyloidosis. The causes of secondary amyloidosis were as follows: familial Mediterranean fever (FMF) 18 (30.5%), pulmonary tuberculosis 12 (20.33%), chronic oseomyelitis 8 (13.55%), bronchiectasia 9 (15.25%), rheumatic diseases 4 (6.4%), Castleman's disease 1 (1.6%), unknown aetiology 7 (11.86%). Hypertension was detected in 15.3% of the cases. In patients with less than 20 ml/min creatinine clearance (Ccr) hypertension was found in 20%. Hypotension was detected in 6 patients and all of these cases had severe hypoalbuminaemia (<2.1 g/dl). Nephrotic range proteinuria (>3.5 g/day) was found in 75% of cases. Daily proteinuria was correlated with serum levels of albumin, total lipid and cholesterol, haematocrit and duration of disease. The mean Ccr was 51.03+/-40.60 ml/min. Twenty-nine per cent of patients had Ccr less than 20 ml/min. Renal, subcutaneous fat and rectal biopsies demonstrated amyloid in 100%, 20% and 57.6%, respectively, of patients tested. Patients with secondary amyloidosis were treated with colchicine in addition to the therapy of primary disease (in 6 patients). Nine patients died, and end-stage renal disease developed in 12 patients during four years of follow-up. Proteinuria disappeared or decreased in patients with secondary amyloidosis except secondary to collagen tissue disease, without advanced renal failure. Colchicine did not affect amyloid deposition in 2 patients with normal renal function and negative proteinuria, who were rebiopsied. It can be questioned that "Colchicine may have effect(s) for decrement on proteinuria". At least colchicine can be of use in secondary amyloidosis.
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PMID:Report on 59 patients with renal amyloidosis. 1075 52

There are many similarities in the profile of chronic renal disease in the five North African countries, reflecting their close resemblance in ethnic background, bioecology and socioeconomic standards. The incidence of renal disease is much higher than that in the West, yet the prevalence is relatively lower, which mirrors the inadequacy of medical care facilities. The principal causes of end-stage chronic renal disease (ESRD) are interstitial nephritis (14 to 32%), often attributed to environmental pollution and inadvertent use of medications; glomerulonephritis (11 to 24%), mostly mesangioproliferative and focal segmental sclerosis; diabetes (5 to 20%) and nephrosclerosis (5 to 21%). Obstructive/reflux nephropathy, attributed to urinary schistosomiasis, is common in Egypt (7%), Libya and Southern Algeria. Primary urolithiasis is a frequent cause of obstructive nephropathy in the western (hyperoxaluria) and middle (cystinuria) regions. The incidence of tuberculosis is increasing, particularly the diffuse interstitial and hematogenous forms. It is responsible also for 10 to 40% of renal amyloidosis. The latter is also frequently associated with familial Mediterranean fever. Sickle cell anemia is an important health problem in the west, leading to a wide range of glomerular and tubulointerstitial nephropathies. Takayasu disease is increasingly recognized as a cause of ischemic nephropathy and renovascular hypertension. The management of ESRD is largely influenced by late referral, co-morbidities and lack of dialysis facilities. Hemodialysis is the most frequent modality of renal replacement therapy (RRT). CAPD is used sporadically. Renal transplantation, largely from live (often unrelated) donors, is offered to less than 5% of patients with ESRD. The reported outcome of RRT generally conforms with international standards.
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PMID:End-stage renal disease in North Africa. 1286 87

Renal involvement with amyloidosis is common but causes patient survival to be poor, rarely reaching 5 years. In this study, we retrospectively reviewed clinical and biological characteristics as well as treatments and outcomes of patients with renal amyloidosis followed for more than 5 years. Between 1975 and 2003, 485 patients were diagnosed with renal amyloidosis including only 12 patients who were followed more than 5 years. The six men and six women of mean age 42.4 years (range 18 to 66 years) displayed renal signs of lower limb edema in all cases; hypertension in four cases, proteinuria on urinalysis in all cases with microscopic hematuria in five cases. Biological tests showed nephrotic syndrome in 11 patients, normal renal function in nine patients, and renal failure in three patients whose mean creatinine was 481.6 micromol/L (range 294 to 726). The amyloidosis was AA type in 11 cases and non-AA in one case. An etiologic survey revealed spondylarthropathy in one patient, pulmonary tuberculosis in two patients, chronic bronchitis in three patients, hepatic hydatic cyst in one patient, Mediterranean familial fever in two patients, Crohn's disease in one patient, Hodgkin's lymphoma in one patient, and multiple myeloma in one patient. Specific treatment was initiated with colchicine in seven patients. At a 110-month mean follow-up (range 53 to 153 months), remission of nephrotic syndrome was observed in four cases, progression to chronic renal failure in two patients, and to end-stage renal failure in five cases (range 53 to 196 months), with stabilization of renal function in seven patients. In conclusion, primary amyloid disease should be optimally suppressed in patients with renal involvement. The role of this treatment in remission of renal amyloidosis is not well established. This efficacy of the treatment has been demonstrated in some patients with improved survival.
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PMID:Renal amyloidosis followed more than 5 years: report of 12 cases. 1535 Apr 80

A middle age Portuguese woman was investigated for renal amyloidosis. She presented with progressive renal failure, proteinuria, hypertension, and sensory symptoms in the feet. Clinical and neurophysiological evaluation disclosed sensory-autonomic neuropathy. Cardiovascular tests and 123-MIBG investigation showed parasympathetic dysfunction and decrease of myocardial innervation, in accordance with small fiber neuropathy, as usually observed in amyloidosis. Immunohistochemical studies revealed AFib amyloidosis and genetic studies the amino acid exchange Glu526Val of the fibrinogen Aalpha-chain mutation, which was also present in one of her sons. The mutant gene in this patient was associated with the same haplotype as all other reported cases of Glu526Val mutations. This is the first reported AFibamyloidosis in Portugal, and the first case of AFib in which sensory and autonomic nerve fiber dysfunction is described, indicating that small nerve fiber lesion can occur in the fibrinogen Aalpha chain mutation. This can be important for prognosis, in particular when liver transplantation is considered for treatment.
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PMID:Mutant fibrinogen A-alpha-chain associated with hereditary renal amyloidosis and peripheral neuropathy. 1552 23

Psoriasis is an immune-mediated chronic inflammatory disorder of the skin. Association with kidney disease has been debated for a long time. Secondary renal amyloidosis in psoriatic arthropathy and drug-induced renal lesions secondary to methotrexate or cyclosporine are accepted accompaniments of psoriasis. IgA nephropathy is also known to occur in psoriatics. We report three interesting cases of renal involvement in long-standing established psoriasis on topical therapy alone. The patients presented with hypertension, significant proteinuria, hypoalbuminemia, and dyslipidemia. Kidney biopsies revealed "mesangioproliferative glomerulonephritis with IgA nephropathy," "focal proliferative glomerulonephritis," and "membranous glomerulonephropathy." The former two had marked active urinary sediment. Patients improved on prednisolone and angiotensin-converting enzyme inhibitors. Contrary to the belief that renal involvement in psoriasis is coincidental, we propose that kidney disease may be a common accompaniment of psoriasis, which may be labeled as "psoriatic nephropathy" or "psoriatic kidney disease." The exact mechanism of this entity is yet to be elucidated.
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PMID:Psoriatic nephropathy--does an entity exist? 1571 45

This study among elderly renal Egyptian patients (n=220) with only 20 of them were subjected to renal biopsy. Results showed: diabetic nephropathy in 28.2%, hypertensive nephrosclerosis 25.5%, UTI, cystitis and pyelonephritis in 6.8%, renal stones in 5.9%, obstructive uropathy in 7.6%, simple cysts in 4.5%, CRF of unknown origin in 13.1%, and others in 26.4%. DM and HTN were S related to kidney function tests and increase in elderly. Other cardiovascular risk factors and smoking are reported by previous workers to be HS related to renal diseases. Age was significantly related to GFR, BUN and Cr. but sex difference was not significantly related to renal diseases. Multiple myeloma, lupus nephritis, vasculitis and hepatitis B were all recorded in few numbers of elderly Egyptians. HCV was more common and more likely to cause renal diseases. Abdomino-pelvic ultrasound was confirmatory to clinical renal diseases diagnosis. Among patients (n=20) biopsies showed focal necrotizing GN in 20%, membranous nephropathy in 50% and renal amyloidosis in 30%. CTIN was associated in some cases due to NSAID intake. Analgesic nephropathy was a common problem that might lead to ARF in some cases especially in the elderly. Ultrasound results among the biopsy group were confirmatory to clinical diagnosis.
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PMID:Pattern of renal diseases among elderly Egyptians patients with acute or chronic renal diseases in Ain Shams University and Nasser Institute Hospitals, Cairo, Egypt. 1633 99

Surgery is usually the only solution to modify the evolution of morbid obesity and resolve the associated co-morbidities. There is very little written regarding malabsorptive surgery and transplantation. A 48-year-old male with hypertension, hyperuricemia and obesity underwent renal transplantation in 1994 for renal amyloidosis. He was maintained on oral immunosuppressive cyclosporine. The patient developed uncontrollable hypertension, hyperlipemia, hyperglycemia and increasing weight to a BMI of 44. Thus, in December 2004, he underwent biliopancreatic diversion (BPD). After 18 months follow-up, he has lost 85% of his excess weight, and his hypertension, hyperglycemia and hyperlipemia are markedly improved. Renal function was not modified, nor were the levels of cyclosporine. He has had no complications derived from the BPD, and has a better quality of life.
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PMID:Biliopancreatic diversion in a renal transplant patient. 1760 72


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