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Cystinuria is an inborn error of amino acid transport that results in the defective absorption by the kidneys of the amino acid called cystine. The name means "cystine in the urine."
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What are the symptoms of cystinuria?
Severe cystinuria occurs when people are homozygous for the disease. For these individuals, the kidneys may excrete as much as 30 times the normal amount of cystine
What is the treatment for cystinuria?
The best treatment for cystinuria is to prevent stones from forming. Stones can be prevented by drinking enough liquid each day (about 5-7 qts) to produce at least 8 pts of urine,
What is Nitroprusside?
They are two tests that a laboratory would perform on urine to screen for metabolic diseases. The first is to detect ketoaciduria and the second to detect cystinuria/homocystinuria.
What is the diagnosis for cystinuria?
When the urine contains extremely high amounts of cystine, yellow-brown hexagonal crystals are visible when a sample is examined under the microscope.
What is phenylhydrazine-nitroprusside test?
They are two tests that a laboratory would perform on urine to screen for metabolic diseases. The first is to detect ketoaciduria and the second to detect cystinuria/homocystinuria.
What is the test for sulphur containing amino acids?
The cyanide-nitroprusside test can be used to detect sulphur. The test detects sulphhydryl group compounds and is used to test urine in screening tests for the metabolic diseases, cystinuria and homocystinuria.
Cystinuria?
DefinitionCystinuria is a condition passed down through families in which stones form in the kidney, ureter, and bladder.See also: NephrolithiasisAlternative NamesStones - cystine; Cystine stonesCauses, incidence, and risk factorsCystinuria is an autosomal recessive disorder, so you must inherit the faulty gene from both parents in order to have symptoms.Cystinuria is caused by too much of an amino acid called cystine in the urine. After entering the kidneys, most cystine normally dissolves and goes back into the bloodstream. But people with cystinuria have a genetic defect that interferes with this process. As a result, cystine builds up in the urine and forms crystals or stones, which may get stuck in the kidneys, ureters, or bladder.About one in every 10,000 people have cystinuria. Cystine stones are most common in young adults under age 40. Less than 3% of urinary tract stones are cystine stones.SymptomsBlood in the urineFlank pain or pain in the side or back Usually on one side; rarely felt on both sidesOften severeMay get increasingly worse over daysPain may also be felt in the pelvis, groin, genitals, or between the upper abdomen and the back.Signs and testsThe disorder is usually diagnosed after an episode of kidney stones. Analysis of the stones shows they are made of cystine.Tests that may be done to detect stones and diagnose this condition include:Abdominal CT scan, MRI, or ultrasoundIntravenous pyelogram (IVP)Urinalysis (may show cystine crystals)24-hour urine collection (shows high levels of cystine)TreatmentThe goal of treatment is to relieve symptoms and prevent the development of more stones. A person with severe symptoms may need to be admitted to a hospital.Treatment involves drinking plenty of fluids, particularly water, so that large amounts of urine are produced. The patient should drink at least 6-8 glasses per day.In some cases, fluids may need to be given through a vein (by IV).Medications may be prescribed to help dissolve the cystine crystals. Eating less salt can also decrease cystine excretion and stone formation.Pain relievers may be needed to control pain in the kidney or bladder area associated with the passage of stones. The stones usually pass through the urine on their own. If they do not, surgery may be needed:Percutaneous nephrostolithotomy or nephrolithotomyUreteroscopy, for stones in the lower urinary tractExtracorporeal shock wavelithotripsy (ESWL). This procedure is not as successful for removal of cystine stones as it is for other types of stones)Expectations (prognosis)Cystinuria is a chronic, lifelong condition. Stones commonly return. However, the condition rarely results in kidney failure, and it does not affect other organs.ComplicationsBladder injuryfrom stoneUreteral obstructionKidney injuryfrom stoneKidney infectionUrinary tract infectionCalling your health care providerCall your health care provider if you have symptoms of urinary tract stones.PreventionThere is no known prevention for cystinuria. Any person with a known history of stones in the urinary tract should drink plenty of fluids to regularly produce a high amount of urine. This allows stones and crystals to leave the body before they become large enough to cause symptoms.ReferencesRogers A, Kalakish S, Desai RA, Assimos DG. Management of cystinuria.Urol Clin North Am. 2007;34(3).
What makes the kidneys an organ?
"Kidney stones are made of salts and minerals in the urine that stick together to form small "pebbles." Calcium stones are the most common type of kidney stone and occur in two major forms: calcium oxalate and calcium phosphate. Uric acid stones form when the urine is persistently acidic. Struvite stones result from kidney infections.
What conditions might predispose a person to kidney stones?
There are several types of kidney stones, but the most common are calcium oxalate stones, followed by calcium phosphate stones.A variety of foods contain oxalates, which are usually bound up with other compounds in the intestines. When oxalates make it to the kidney, they bind with calcium and can form stones."Calcium oxalate stonesThe most common type of kidney stone is composed of calcium oxalate crystals, occurring in about 75 to 80% of cases,[9] and the factors that promote the precipitation of crystals in the urine are associated with the development of these stones.Perhaps counter-intuitively, current evidence suggests that the consumption of low-calcium diets is associated with a higher overall risk for the development of kidney stones.[2] This is perhaps related to the role of calcium in binding ingested oxalate in the gastrointestinal tract. As the amount of calcium intake decreases, the amount of oxalate available for absorption into the bloodstream increases; this oxalate is then excreted in greater amounts into the urine by the kidneys. In the urine, oxalate is a very strong promoter of calcium oxalate precipitation, about 15 times stronger than calcium.Uric acid (urate)About 5-10% of all stones are formed from uric acid.[9] A risk factor is obesity.[21] Uric acid stones form in association with conditions that cause hyperuricosuria with or without high blood serum uric acid levels (hyperuricemia); and with acid/base metabolism disorders where the urine is excessively acidic (low pH) resulting in uric acid precipitation. A diagnosis of uric acid nephrolithiasis is supported if there is a radiolucent stone, a persistent undue urine acidity, and uric acid crystals in fresh urine samples.[22][edit] Other typesOther types of kidney stones are composed of struvite (magnesium, ammonium and phosphate); calcium phosphate; and cystine.Struvite stones are also known as infection stones, urease or triple-phosphate stones. About 10-15% of urinary calculi consist of struvite stones.[23] The formation of struvite stones is associated with the presence of urea-splitting bacteria,[24] most commonly Proteus mirabilis (but also Klebsiella, Serratia, Providencia species). These organisms are capable of splitting urea into ammonia, decreasing the acidity of the urine and resulting in favorable conditions for the formation of struvite stones. Struvite stones are always associated with urinary tract infections.The formation of calcium phosphate stones is associated with conditions such as hyperparathyroidism and renal tubular acidosis.Formation of cystine stones is uniquely associated with people suffering from cystinuria, who accumulate cystine in their urine. Cystinuria can be caused by Fanconi's syndrome.Urolithiasis has also been noted to occur in the setting of therapeutic drug use, with crystals of drug forming within the renal tract in some patients currently being treated with Indinavir, Sulfadiazine or Triamterene."
What rhymes with hematuria?
End rhymes for "hematuria": 1. acetonuria 2. acholuria 3. achromaturia 4. aciduria 5. adiposuria 6. albiduria 7. albinuria 8. albuminuria 9. alcaptonuria 10. alkalinuria 11. alkaluria 12. alkaptonuria 13. allantoinuria 14. alloxuria 15. ameburia 16. aminoaciduria 17. aminuria 18. ammoniuria 19. amylasuria 20. amylosuria 21. amyluria 22. anuria 23. archosauria 24. aspartylglycosaminuria 25. azoturia 26. bacilluria 27. bacteriuria 28. baruria 29. beeturia 30. bilirubinuria 31. biliuria 32. blennuria 33. bradyuria 34. calcariuria 35. calciuria 36. carbohydraturia 37. carboluria 38. centuria 39. chloriduria 40. chloruria 41. cholesteroluria 42. choleuria 43. choluria 44. chromaturia 45. chyluria 46. citrullinuria 47. creatinuria 48. crystalluria 49. curia 50. cylindruria 51. cystathioninuria 52. cystinuria 53. cyturia 54. dextrinuria 55. diastasuria 56. dinosauria 57. dysuria 58. enaliosauria 59. eosinophiluria 60. erythruria 61. etruria 62. fibrinuria 63. fructosuria 64. galactosuria 65. globulinuria 66. glucosuria 67. glutathionuria 68. glycosuria 69. haematocyturia 70. haematuria 71. haemoglobinuria 72. halisauria 73. hematocyturia 74. hematuria 75. hemoglobinuria 76. histidinuria 77. histonuria 78. holothuria 79. homaluria 80. homocitrullinuria 81. homocystinuria 82. hyalinuria 83. hydrothionuria 84. hypercalcinuria 85. hypercalciuria 86. hyperglycinuria 87. hyperglycosuria 88. hyperketonuria 89. hyperlysinuria 90. hyperoxaluria 91. hyperphosphaturia 92. hypersthenuria 93. hyperuricuria 94. hypoaldosteronuria 95. hypoazoturia 96. hypochloruria 97. hypocitraturia 98. hypophosphaturia 99. hyposthenuria 100. hypouricuria from: rhymezone.com
Kidney stones?
DefinitionA kidney stone is a solid mass made up of tiny crystals. One or more stones can be in the kidney or ureter at the same time.See also: CystinuriaAlternative NamesRenal calculi; Nephrolithiasis; Stones - kidneyCauses, incidence, and risk factorsKidney stones can form when urine contains too much of certain substances. These substances can create small crystals that become stones.The biggest risk factor for kidney stones is dehydration.Kidney stones may not produce symptoms until they begin to move down the tubes (ureters) through which urine empties into the bladder. When this happens, the stones can block the flow of urine out of the kidneys. This causes swelling of the kidney or kidneys, causing pain. The pain is usually severe.Kidney stones are common. A person who has had kidney stones often gets them again in the future. Kidney stones often occur in premature infants.Some types of stones tend to run in families. Certain kinds of stones can occur with bowel disease, ileal bypass for obesity, or renal tubule defects.There are different types of kidney stones. The exact cause depends on the type of stone.Calcium stones are most common. They occur more often in men than in women, and usually appear between ages 20 - 30. They are likely to come back. Calcium can combine with other substances, such as oxalate (the most common substance), phosphate, or carbonate to form the stone. Oxalate is present in certain foods. Diseases of the small intestine increase the risk of forming calcium oxalate stones.Cystine stonescan form in people who have cystinuria. This disorder runs in families and affects both men and women.Struvite stones are mostly found in women who have a urinary tract infection. These stones can grow very large and can block the kidney, ureter, or bladder.Uric acidstones are more common in men than in women. They can occur with gout or chemotherapy.Other substances also can form stones.SymptomsThe main symptom is severe pain that starts suddenly and may go away suddenly:Pain may be felt in the belly area or side of the backPain may move to groin area (groin pain) or testicles (testicle pain)Other symptoms can include:Abnormal urine colorBlood in the urineChillsFeverNauseaVomitingSigns and testsPain can be severe enough to need narcotic pain relievers. The belly area (abdomen) or back might feel tender to the touch.Tests for kidney stones include:Analysis of the stone to show what type of stone it isUric acidlevelUrinalysis to see crystals and red blood cells in urineStones or a blockage of the ureter can be seen on:Abdominal CT scanAbdominal/kidney MRIAbdominal x-raysIntravenous pyelogram (IVP)Kidney ultrasoundRetrograde pyelogramTests may show high levels of calcium, oxylate, or uric acid in the urine or blood.TreatmentThe goal of treatment is to relieve symptoms and prevent further symptoms. (Kidney stones that are small enough usually pass on their own.) Treatment varies depending on the type of stone and how severe the symptoms are. People with severe symptoms might need to be hospitalized.When the stone passes, the urine should be strained and the stone saved and tested to determine the type.Drink at least 6 - 8 glasses of water per day to produce a large amount of urine. Some people might need to get fluids through a vein (intravenous).Pain relievers can help control the pain of passing the stones (renal colic). For severe pain, you may need to take narcotic pain killers or nonsteroidal anti-inflammatory drugs (NSAIDS) such as ibuprofen.Depending on the type of stone, your doctor may prescribe medicine to decrease stone formation or help break down and remove the material that is causing the stone. Medications can include:Allopurinol (for uric acid stones)Antibiotics (for struvite stones)DiureticsPhosphate solutionsSodium bicarbonate or sodium citrate (which make the urine more alkaline)Surgery is usually needed if:The stone is too large to pass on its ownThe stone is growingThe stone is blocking urine flow and causing an infection or kidney damageToday, most treatments are much less invasive than in the past.Extracorporeal shock-wave lithotripsy is used to remove stones slightly smaller than a half an inch that are located near the kidney. This method uses ultrasonic waves or shock waves to break up stones. Then, the stones leave the body in the urine.Percutaneous nephrolithotomy is used for large stones in or near the kidney, or when the kidneys or surrounding areas are incorrectly formed. The stone is removed with an endoscope that is inserted into the kidney through a small opening.Ureteroscopy may be used for stones in the lower urinary tract.Standard open surgery (nephrolithotomy) may be needed if other methods do not work or are not possible.Expectations (prognosis)Kidney stones are painful but usually can be removed from the body without causing permanent damage. They tend to return, especially if the cause is not found and treated.ComplicationsDecrease or loss of function in the affected kidneyKidney damage, scarringObstruction of the ureter (acute unilateral obstructive uropathy)Recurrence of stonesUrinary tract infectionCalling your health care providerCall your health care provider if you have symptoms of a kidney stone.Also call if symptoms return, urination becomes painful, urine output decreases, or other new symptoms develop.PreventionIf you have a history of stones, drink plenty of fluids (6 - 8 glasses of water per day) to produce enough urine. Depending on the type of stone, you might need to take medications or other measures to prevent the stones from returning.You may need to change your diet to prevent some types of stones from coming back.ReferencesCameron MA, Sakhaee K. Uric acid nephrolithiasis. Urol Clin North Am. 2007;34(3):335-346.Chandhoke PS. Evaluation of the recurrent stone former. Urol Clin North Am. 2007; 34(3):315-322.Finkielstein VA. Strategies for preventing calcium oxalate stones. CMAJ. 2006;174(10):1407-1409.Pietrow PK, Preminger GM. Evaluation and medical management of urinary lithiasis. In: Wein AJ, ed. Campbell-Walsh Urology. 9th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 43.
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