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Kidney stones are primarily composed of calcium salts, with the most common being calcium oxalate (70-80%), followed by calcium phosphate and uric acid. When urine contains high concentrations of these ions, they can form crystals and eventually stones. [41] The formation of kidney stones occurs in three main phases: [41]
Type I xanthinuria can be caused by a deficiency of xanthine oxidase, which is an enzyme necessary for converting xanthine to uric acid. [2] Type II xanthinuria and molybdenum cofactor deficiency lack one or two other enzyme activities in addition to xanthine oxidase.
Saturation levels of uric acid in blood may result in one form of kidney stones when the urate crystallizes in the kidney. These uric acid stones are radiolucent, so do not appear on an abdominal plain X-ray. [57] Uric acid crystals can also promote the formation of calcium oxalate stones, acting as "seed crystals". [58]
Diagnosis is based on clinical and laboratory findings of low serum osmolality and low serum sodium. [13] Urinalysis reveals a highly concentrated urine with a high fractional excretion of sodium (high sodium urine content compared to the serum sodium). [14] A suspected diagnosis is based on a serum sodium under 138.
The National Kidney Foundation’s Kidney Disease Outcomes Quality Initiative (KDOQI) recommends a low protein diet of 0.55-0.6 g/kg/day but specific levels of protein intake varies for each individual and should be altered with the advice of a dietician and/or physician. [22] [23]
Suspicion often comes about when the developmental delay of the individual is associated with hyperuricemia. Otherwise, the diagnosis should be alleged when developmental delay is associated with kidney stones (nephrolithiasis) or blood in the urine , caused by uric acid stones. For the most part, Lesch–Nyhan syndrome is first suspected when ...
The word purine (pure urine) [9] was coined by the German chemist Emil Fischer in 1884. [10] [11] He synthesized it for the first time in 1898. [11] The starting material for the reaction sequence was uric acid (8), which had been isolated from kidney stones by Carl Wilhelm Scheele in 1776. [12]
Intrinsic kidney diseases are the classic diseases of the kidney including drug toxicity and nephritis. Post-renal kidney failure is outlet obstruction after the kidney, such as a kidney stone or prostatic bladder outlet obstruction. Kidney failure may require medication, dietary lifestyle modifications, and dialysis.
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