Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030193 (pain)
 261,466 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a clinical case of two patients who received a cadaveric renal graft from the same donor in a multi-organ extraction procedure. The donor was a 39-years-old woman who died of intracranial tumour. A benign ganglioma was shown in biopsy. The two recipients received the same immunosuppressive regimen. Induction comprised cyclosporin A, steroids and basiliximab while cyclosporin A and steroids were used in maintenance immunosuppression. The A patient was a 53-year-old woman with chronic renal failure due to chronic pyelonephritis. She had been undergoing periodic haemodialysis for five years. She was hospitalised for sciatic pain refractory to rest and analgesics 35 days after transplantation. Two days later, her graft function deteriorated. Ultrasonography ruled out a urinary tract obstruction. Cyclosporine levels was normal. It was interpreted as an acute rejection episode and was treated with boluses of methylprednisolone (500 mg for 3 days). At the same time, her right leg began to show paraesthesia, coldness and a decreased arterial pulse. A spinal magnetic nuclear resonance was performed. It showed an aneurysm of right common iliac artery (fig. 1). An arteriography confirmed the existence of a pseudoaneurysm and an arteriovenous fistula to inferior vena cava (fig. 2). The B recipient was a 56-year-old woman with chronic renal failure due to chronic pyelonephritis. She required haemodialysis for two years. In the 4th month after transplantation her graft function deteriorated. Graft biopsy did not show acute cellular rejection, so she was kept on immunosuppressive treatment. A second graft biopsy was taken and no changes with the previous one was observed. Renal function deteriorated and haemodialysis was required. During the 6th month she began to show paraesthesia, coldness and decreased arterial pulse in her right leg. Ultrasonography showed pyelocaliectasis with an adjacent solid-liquid mass, abdominal CT scan confirmed. Arteriography proved the presence of a pseudoaneurysm of the right common iliac artery (fig. 3). Transplantectomy and pseudoaneurysm resection was performed in the two cases. Culture analysis revealed fungi identified as Aspergillus in both pseudoaneurysms. Medical treatment was started immediately with liposomal amphotericin B. The clinical evolution of the two recipients were different. While recipient A died, B patient recovered, requiring haemodialysis.
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PMID:[Vascular Aspergillus infection in two recipients of kidneys from the same donor]. 1521 65

Abnormalities in taste function may contribute to poor dietary intake in the elderly, and in patients with renal failure or cancer. This study examined the effect of age on taste thresholds, and taste thresholds adjusted for age, in patients with renal failure with and without dialysis, and patients with cancer receiving chemotherapy and/or radiotherapy. Three groups of healthy volunteers aged 21-34 (n=26), 36-61 (n=13), and 69-94 (n=24), were recruited for the study on the effect of age. Nineteen patients with chronic renal failure on chronic ambulatory peritoneal dialysis (CAPD) and 11 age-matched chronic renal failure patients not yet requiring dialysis were recruited to examine the effect of chronic renal failure on taste function. Twenty-four inpatients with various types of cancer were recruited from a clinical oncology ward. Taste threshold was measured using commercial flavors supplied by Firmenich (pork, beef) and the ascending forced-choice method. Results showed that taste threshold increased with age. No abnormality in taste threshold was observed in patients with chronic renal failure with and without dialysis, and in patients with cancer. However, altered taste occurred in a large number of these patients. Abnormal taste function is present in healthy elderly people, and in patients with chronic renal failure and cancer. The nature of the abnormality differs among these groups, consisting of elevation of taste threshold in the elderly, and dysgeusia in those with disease.
J Pain Symptom Manage 2004 Jul
PMID:Effect of age and disease on taste perception. 1522 82

Fabry disease is an inherited deficiency of the lysosomal hydrolase alpha-galactosidase A (alpha GalA) due to mutations in the Gal gene at Xq22. The result is intralysosomal accumulation of glycosphingolipids. In males who carry the mutation (1/40,000), severe multisystem disease develops in childhood or adolescence. Attacks of acute pain lasting a few minutes to a few days occur in the hands and feet, joints, muscles, and abdomen, sometimes with a fever. Highly suggestive skin lesions called angiokeratomas develop, as well as cornea verticillata characterized by corneal deposits without visual impairment. Stroke, seizures, heart disorders (conduction disturbances, valve disease, and left heart failure) and kidney disorders (proteinuria and chronic renal failure) develop in the third or fourth decade of life. Women who are heterozygous for the Gal gene can transmit the disease to their sons but are usually free of symptoms, although many have cornea verticillata. However, they may have moderate or severe disease related to uneven chromosome X inactivation. Late-onset variants with predominant neurological, cardiac, or renal manifestations have been described. The diagnosis is difficult when the family history is negative for Fabry disease. Tests on plasma and leukocytes show very low levels of alpha GalA activity in affected men, confirming the diagnosis. The Gal gene mutation should be looked for to detect heterozygous women. Symptomatic treatments include analgesics, antihypertensives, antiplatelet agents or anticoagulants to treat ischemic events, and hemodialysis or kidney transplantation to treat chronic renal failure. The recent introduction of enzyme replacement therapy with recombinant agalsidase alpha or beta has been a major breakthrough in the treatment of Fabry disease. Enzyme replacement therapy relieves the pain and decreases the risk of complications. The safety profile is good. Given the high cost of agalsidase therapy (about 160,000 euro/year/patient) and the low incidence of Fabry disease, patients should be referred to highly specialized centers (see addresses on the France Orphanet web site).
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PMID:Fabry disease: a review. 1547 88

The prognosis of Fabry disease has changed since enzyme-replacement treatment was introduced. Therefore, early diagnosis is instrumental. We describe a family presenting with chronic renal failure and proteinuria in which classic skin and neurological features were absent and the diagnosis of Fabry disease was difficult and not established until a second family member developed renal abnormalities. A 35-year-old man was admitted because he was overweight and had hypertension, with a serum creatinine level of 1.3 mg/dL (115 micromol/L) and protein excretion of 870 mg/d. Because 1 brother, who died years ago at the age of 32 years of acute myeloid leukemia, also had chronic renal failure and proteinuria, the diagnosis of Fabry disease was entertained. In the index patient, acroparesthesia, hypohidrosis, pain, angiokeratomas of the skin, and cornea verticillata suggesting Fabry disease were absent. Conversely, renal biopsy showed typical globotriaosylceramide deposits, and leukocyte alpha-galactosidase (alpha-GLA) A activity was decreased. Analysis of the alpha-GLA gene showed the mutation E66K. The mutation also was found in another asymptomatic 30-year-old brother who also had chronic renal failure and proteinuria, but normal extrarenal findings. In the brother who died, Fabry disease, missed at autopsy because of cancer-related findings, could be confirmed after repeated review of histological slides. Mutation carriers also included the mother, a sister (both without abnormalities), and a nephew (with episodic pains in his feet). We conclude that familial chronic renal failure combined with proteinuria is suggestive of Fabry disease, and such specific mutations as E66K predominantly may affect the kidneys.
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PMID:Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys. 1586 41

Over the past 20 years children have benefited from major improvements in both technology and clinical management of dialysis. Morbidity during dialysis sessions has decreased with seizures being exceptional and hypotensive episodes rare. Pain and discomfort have been reduced with the use of chronic internal jugular venous catheters and anesthetic creams for fistula puncture. Non-invasive technologies to assess patient target dry weight and access flow can significantly reduce patient morbidity and health care costs. The development of urea kinetic modeling enables calculation of the dialysis dose delivery, Kt/V, and an indirect assessment of the intake. Nutritional assessment and support are of major importance for the growing child. Even if the validity of these "urea only" data is questioned, their analysis provides information useful for follow-up. Newer machines provide more precise control of ultrafiltration by volumetric assessment and continuous blood volume monitoring during dialysis sessions. Buffered bicarbonate solutions are now standard and more biocompatible synthetic membranes and specific small size material dialyzers and tubing have been developed for young infants. More recently, the concept of "ultrapure" dialysate, i.e. free from microbiological contamination and endotoxins, has developed. This will enable the use of hemodiafiltration, especially with the on-line option, which has many theoretical advantages and should be considered in the case of maximum/optimum dialysis need. Although the optimum dialysis dose requirement for children remains uncertain, reports of longer duration and/or daily dialysis show they are more effective for phosphate control than conventional hemodialysis and should be considered at least for some high-risk patients with cardiovascular impairment. In children hemodialysis has to be individualized and viewed as an "integrated therapy" considering their long-term exposure to chronic renal failure treatment. Dialysis is seen only as a temporary measure for children compared with renal transplantation because this enables the best chance of rehabilitation in terms of educational and psychosocial functioning. In long term chronic dialysis, however, the highest standards should be applied to these children to preserve their future "cardiovascular life" which might include more dialysis time and on-line hemodiafiltration with synthetic high flux membranes if we are able to improve on the rather restricted concept of small-solute urea dialysis clearance.
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PMID:Hemodialysis in children: general practical guidelines. 1594 92

We present a rare case of colon perforation caused by hydrostatic irrigation enema in a patient with chronic renal failure. A 76-year-old woman was admitted to our hospital because of an exacerbation of lumbar pain and increased difficulty in walking. She had a medical history of traumatic neck pain and chronic lower back pain, which had been treated with non-steroidal anti-inflammatory drugs (NSAIDs) for 8 years. On admission, the C-reactive protein level was 6.8 mg/dl, so we planned to do a colonoscopy to determine the cause of inflammation. The patient developed abdominal pain approximately 3.5 h after a pre-procedural enema was administered. An emergency operation was performed and a small perforation was found in the sigmoid colon. We conclude that the cause of the colon perforation was a combination of the use of a hydrostatic retrograde irrigation enema in a patient with chronic renal failure who had been treated with long-term NSAIDs.
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PMID:Retrograde hydrostatic irrigation enema-induced perforation of the sigmoid colon in a chronic renal failure patient before colonoscopy. 1637 90

The first peritoneal accesses were devices that had been used in other fields (general surgery, urology, or gynecology): trocars, rubber catheters, and sump drains. In the period after World War II, numerous papers were published with various modifications of peritoneal dialysis. The majority of cases were treated with the continuous flow technique; rubber catheters for inflow and sump drains for outflow were commonly used. At the end of the 1940s, intermittent peritoneal dialysis started to be more frequently used. Severe complications of peritoneal accesses created incentive to design accesses specifically for peritoneal dialysis. The initial three, in the late 1940s, were modified sump drains; however, Ferris and Odel for the first time designed a soft, polyvinyl intraperitoneal tube with metal weights to keep the catheter tip in the pelvic gutter where the conditions for drain are the best. In the 1950s, intermittent peritoneal dialysis was established as the preferred technique; polyethylene and nylon catheters became commercially available and peritoneal dialysis was established as a valuable method for treatment of acute renal failure. The major breakthrough came in the 1960s. First of all, it was discovered that the silicone rubber was less irritating to the peritoneal membrane than other plastics. Then, it was found that polyester velour allowed an excellent tissue ingrowth creating a firm bond with the tissue. When a polyester cuff was glued to the catheter, it restricted catheter movement and created a closed tunnel between the integument and the peritoneal cavity. In 1968, Tenckhoff and Schechter combined these two features and designed a silicone rubber catheter with a polyester cuff for treatment of acute renal failure and two cuffs for treatment of chronic renal failure. This was the most important development in peritoneal access. Technological evolution never ends. Multiple attempts have been made to eliminate remaining complications of the Tenckhoff catheter such as exit/tunnel infection, external cuff extrusion, migration leading to obstruction, dialysate leaks, recurrent peritonitis, and infusion or pressure pain. New designs combined the best features of the previous ones or incorporated new elements. Not all attempts have been successful, but many have. To prevent catheter migration, Di Paolo and his colleagues applied the old idea of providing weights at the catheter tips to Tenckhoff catheters. In another modification, Twardowski and his collaborators created a permanent bend to the intra-tunnel portion of the silicone catheter to eliminate cuff extrusions. The Tenckhoff catheter continues to be widely used for chronic peritoneal dialysis, although its use is decreasing in favor of swan-neck catheters. Soft, silicone rubber instead of rigid tubing virtually eliminated such early complications as bowel perforation or massive bleeding. Other complications, such as obstruction, pericatheter leaks, and superficial cuff extrusions have been markedly reduced in recent years, particularly with the use of swan-neck catheters and insertion through the rectus muscle instead of the midline. However, these complications still occur, so new designs are being tried.
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PMID:History of peritoneal access development. 1648 37

The kidney is frequently affected in patients with sickle cell syndrome, i.e., homozygous and heterozygous patients, with a consequently large spectrum of renal abnormalities that may range from minimal functional changes to chronic renal failure. Here, we present a 13-year-old boy with sickle cell anemia (SCA) (HbSS) who was referred to our unit with nephrotic syndrome. Renal biopsy revealed AA type amyloidosis on the basis of light microscopic findings, indicating Congo red staining and immunohistochemistry. He had neither a family history of familial Mediterranean fever (FMF) nor any complaint of recurrent abdominal pain, arthritis, and fever, but frequent painful vaso-occlusive crises. The patient was found to have no MEFV gene (Mediterranean feVer) mutations either. Painful episodic attacks might provoke recurrent acute inflammation, leading to repeated stimulation of acute phase responses and cause secondary amyloidosis. To our knowledge, this boy is the first case of SCA complicated by renal amyloidosis observed in childhood.
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PMID:Renal amyloidosis in a child with sickle cell anemia. 1657 Feb 2

The objective of the present study was to determine the frequency of the most common clinical features in patients with autosomal dominant polycystic kidney disease in a sample of the Brazilian population. The medical records of 92 patients with autosomal dominant polycystic kidney disease attended during the period from 1985 to 2003 were reviewed. The following data were recorded: age at diagnosis, gender, associated clinical manifestations, occurrence of stroke, age at loss of renal function (beginning of dialysis), and presence of a family history. The involvement of abdominal viscera was investigated by ultrasonography. Intracranial alterations were prospectively investigated by magnetic resonance angiography in 42 asymptomatic patients, and complemented with digital subtraction arteriography when indicated. Mean age at diagnosis was 35.1 +/- 14.9 years, and mean serum creatinine at referral was 2.4 +/- 2.8 mg/dL. The most frequent clinical manifestations during the disease were arterial hypertension (63.3%), lumbar pain (55.4%), an abdominal mass (47.8%), and urinary infection (35.8%). Loss of renal function occurred in 27 patients (mean age: 45.4 +/- 9.5 years). The liver was the second organ most frequently affected (39.1%). Stroke occurred in 7.6% of the patients. Asymptomatic intracranial aneurysm was detected in 3 patients and arachnoid cysts in 3 other patients. In conclusion, the most common clinical features were lumbar pain, arterial hypertension, abdominal mass, and urinary infection, and the most serious complications were chronic renal failure and stroke. Both intracranial aneurysms and arachnoid cysts occurred in asymptomatic patients at a frequency of 7.14%.
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PMID:Renal and extrarenal manifestations of autosomal dominant polycystic kidney disease. 1661 77

A 35-year-old haemodialysis-dependent woman with chronic renal failure developed large, very painful necrotic ulcers and necrosis on the thighs, buttocks and the abdomen with signs of fast progression. The skin biopsy specimens showed a broad necrosis of the epidermis and thrombosed dermal vessels with focal calcium deposits within the wall. In addition, laboratory findings presented an increased product of serum calcium and phosphate concentrations. Thus, we diagnosed calciphylaxis on the basis of clinical, biochemical and histopathological criteria. We initiated a therapy in which our patient was treated with intravenous sodium thiosulphate 3 times weekly. Already after 2 weeks of treatment, no new lesions were detectable and there was a dramatic pain relief. In the following 4 weeks, a successive decline of the ulcers and the healing of individual tissue defects could be seen. Four months after the start of the therapy, the patient underwent successful renal transplantation. Thus, the intravenous therapy of calciphylaxis with sodium thiosulphate might be a new effective alternative in the treatment of this life-threatening disease.
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PMID:Sodium thiosulphate as a promising therapeutic option to treat calciphylaxis. 1670 89


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