Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033687 (proteinuria)
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Massive kidney infarct, due to total occlusion of the main artery, is not a frequent process in clinical urology. The most frequent causes are endocarditis, arteritis, atheromatosis and traumatisms. The complete blockage of the renal artery means that the tissue irrigated by the same is bloodless and prone to necrosis and it must be taken into account that although the renal parenchyma cannot withstand for more than 1 to 2 hours the lack of a blood supply, the obstructions or ischemias of shorter duration cause tissue disorders of greater or lesser importance, affecting more quickly and more intensely the cells of the tubules, than those of the glomerules and later the connecting tissue. Clinically, kidney infarcts may sometimes go unobserved and on many other occasions their symptoms are by no means typical although the most characteristic feature is a more intense, sharp, acute pain with macroscopic hematuria, proteinuria and cylindruria and, in the radiological exploration, kidney "silence" but with the excretory duct intact shown by means of retrograde uretero-pyelography. The kidney angiography will reveal the existence of the arterial obstruction, with the resulting avascular image. Extrapremature surgical treatment would be ideal in the cases of massive infarct but this would also require an extrapremature diagnosis, which would enable the embolectomy (where necessary to be carried out, thereby saving the kidney. However, under normal working conditions, taking into account the period of time which inevitably elapses between the patient feeling pain in the kidney and his reaching the Emergency Department and the necessary examinations being carried out which enable the correct diagnosis to be made, the number of hours which have passed make attempts at conservative surgery completely useless. The authors present the case of a 37-year old patient who, 15 days after presenting a picture of right kidney colic, went to the Emergency Department in our Centre where the doctor on duty merely performed a symptomatic treatment and the patient was not admitted to our Department until several days later. In the different radiourographic examinations carried out, right kidney mutism was observed, as well as the permeability of the excretory duct. The aortography revealed the total occlusion of the right renal artery. As more than 20 days had elapsed since the patient first presented the colic pain and before we examined him, there was no other therapeutic solution but the performing of a nephrectomy. The examination of the organ removed confirmed the diagnosis but the origin of the arterial obstruction could not be clarified for sure.
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PMID:[Massive kidney infarct by occlusion of the main artery]. 46 66

The clinical clues of sudden arterial hypertension, acute pain in the side, proteinuria, hematuria, abdominal bruits and renal failure are suspicious for spontaneous dissection of the renal arteries, even in the absence of one or more of the above-mentioned symptoms. To confirm the diagnosis and to provide appropriate therapy, immediate renal arteriography is mandatory, otherwise acute loss of renal tissue may occur. We report on one patient with spontaneous dissection of the renal arteries.
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PMID:[Spontaneous renal artery dissection]. 144 6

According to whether they are acute or progressive, complete or partial, uni- or bilateral, renal venous thromboses have quite various clinical expressions and biological consequences. The diagnosis is readily suggested by acute pain in the side with an increase in the size of one or both kidneys, associated with hematuria, proteinuria, or in case of renal failure, which is characteristic of acute bilateral thrombosis. On the other hand, chronic thrombosis of a renal vein is sometimes suggested only when complications such as pulmonary embolism occur. This explain why it is often discovered on autopsy. The diagnosis is confirmed on the basis of radiology, with ultrasound combined with vascular Doppler becoming increasingly important. Renal venous thrombosis may have various causes: disorders in renal blood flow, especially in the acute forms in newborns; hypercoagulability, in particular in nephrotic syndromes and above all in extramembranous glomerulonephritis; extension of vena cava thrombosis; retroperitoneal diseases involving the renal pedicle or extension of a renal tumor. The treatment of renal vein thrombosis is mainly medical and based on anticoagulants. The role of fibrinolytic treatment is controversial. Surgery is exceptional.
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PMID:[Thrombosis of renal veins]. 194 Jun 51

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