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== Diagnosis and Evaluation of Metabolic Stone Disease == === UrologySchool.com Summary === ==== AUA'''<span style="color:#ff0000">[https://pubmed.ncbi.nlm.nih.gov/24857648/ β ]</span>''' ==== * '''<span style="color:#ff0000">Screening Evaluation</span>''' **'''<span style="color:#ff0000">History and Physical Exam</span>''' **'''<span style="color:#ff0000">Laboratory (5)</span>''' **#'''<span style="color:#ff0000">Urinalysis +/- culture</span>''' **#'''<span style="color:#ff0000">Serum electrolytes (Na, K, Cl, HCO3)</span>''' **#'''<span style="color:#ff0000">Serum calcium</span>''' **#'''<span style="color:#ff0000">Serum creatinine</span>''' **#'''<span style="color:#ff0000">Serum uric acid</span>''' **'''<span style="color:#ff0000">Imaging</span>''' ***'''<span style="color:#ff0000">Obtain or review available imaging studies to quantify stone burden.</span>''' * '''<span style="color:#ff0000">Extended evaluation</span>''' ** '''<span style="color:#ff0000">One or two 24-hour urine collections</span>''' ***'''<span style="color:#ff0000">Indications (7):</span>''' ***#'''<span style="color:#ff0000">Recurrent stone formers</span>''' ***#'''<span style="color:#ff0000">Family history of stone disease</span>''' ***#'''<span style="color:#ff0000">Solitary kidney</span>''' ***#'''<span style="color:#ff0000">Malabsorptive intestinal disease or resection</span>''' ***#'''<span style="color:#ff0000">Obesity</span>''' ***#'''<span style="color:#ff0000">Recurrent UTIs</span>''' ***#'''<span style="color:#ff0000">Medical conditions predisposing to stones (e.g., RTA Type 1, primary hyperparathyroidism, gout, diabetes mellitus type)</span>''' === Goals of Evaluation === *'''Identify potential associated metabolic disorders such as (5)''' *#'''Distal renal tubular acidosis (RTA)''' *#'''Primary hyperparathyroidism''' *#'''Enteric hyperoxaluria''' *#'''Cystinuria''' *#'''Gouty diathesis''' *'''Reduce risk of stone recurrence''' **First-time stone formers have been estimated to have a 50% risk for recurrence within the subsequent 10 years ** Patients at higher risk for repeat episodes (6): **# Family history of stones **# Intestinal disease (particularly when causing chronic diarrheal states) **# Pathologic skeletal fractures **# Osteoporosis **# UTI **# Gout === History and Physical Exam === ==== History ==== * '''Screen for factors that predispose to calculi''' ** '''<span style="color:#ff0000">Conditions associated with stone disease (8):</span>''' **#'''<span style="color:#ff0000">Obesity</span>''' **#'''<span style="color:#ff0000">Hyperthyroidism</span>''' **#'''<span style="color:#ff0000">Gout</span>''' **#'''<span style="color:#ff0000">Renal tubular acidosis (RTA) type 1</span>''' **#'''<span style="color:#ff0000">Diabetes mellitus type 2</span>''' **#'''<span style="color:#ff0000">Bone disease</span>''' **#'''<span style="color:#ff0000">Primary hyperparathyroidism</span>''' **#'''<span style="color:#ff0000">Malabsorptive gastrointestinal states</span>''' due to bowel resection, bariatric surgery or bowel or pancreatic disease **##'''Chronic diarrhea that could be caused by inflammatory bowel disease (Crohn disease, ulcerative colitis) or irritable bowel syndrome''' **## Gout may predispose the patient to hyperuricosuria or gouty diathesis with either uric acid calculi or calcium oxalate stone formers **## '''Surgical history should be obtained focusing particularly on bariatric surgery and surgeries of the intestinal tract.''' **###'''Roux-en-Y-gastric bypass surgery may significantly increase the overall risk for stone formation''' **###'''In contrast to gastric bypass surgery, restrictive bariatric surgeries such as gastric sleeve or gastric band do not seem to increase the risk for kidney stones''' **'''<span style="color:#ff0000">Dietary history</span>''' ***'''Should include average daily intake of fluids (amount and specific beverages), protein (types and amounts), calcium, sodium, high oxalate-containing foods, fruits and vegetables and over-the-counter supplements.''' **** '''Nutritional factors associated with stone disease, depending on stone type and risk factors, include''' *****Calcium intake below or significantly above the recommended dietary allowance (RDA) *****Low fluid intake *****High sodium intake *****Limited intake of fruits and vegetables *****High intake of animal-derived purines **'''<span style="color:#ff0000">Medications</span>''' ***'''Stone-provoking medications or supplements (9):''' ***#'''Probenecid''' ***#'''Some protease inhibitors''' ***#'''Lipase inhibitors''' ***#'''Triamterene''' ***#'''Chemotherapy''' ***#'''Vitamin C''' ***# '''Vitamin D''' ***#'''Calcium''' ***#'''Carbonic anhydrase inhibitors such as topiramate, acetazolamide, zonisamide''' ==== Physical Exam ==== * '''Body mass index''' ** '''Increased BMI, larger waist size, and weight gain are correlated with an increased risk for stone episodes''' *** '''The association of obesity and uric acid stone formation is primarily due to change in urinary pH''' *** '''The association of obesity with calcium oxalate stone formation is primarily due to increased excretion of promoters of stone formation''' (oxalate, uric acid, sodium, and phosphorus) === Laboratory === ==== <span style="color:#ff0000">Urinalysis +/- culture +/- microscopy</span> ==== * '''<span style="color:#ff0000">Urinalysis should include pH</span>''' ** '''<span style="color:#ff0000">pH > 7.0 is suggestive of infection lithiasis or RTA</span>''' ** '''<span style="color:#ff0000">pH < 5.5 suggests uric acid lithiasis secondary to gouty diathesis</span>''' * '''Urine culture''' ** '''Should be obtained in patients with a urinalysis suggestive of UTI.''' **'''Presence of urea-splitting organisms, such as Proteus species, raises the possibility of struvite stones''' **Many infected calculi will harbor bacteria even after treatment with broad-spectrum antibiotics ** Half of infected calculi grow bacterial cultures that are different from the preoperative urine specimen *'''Urine microscopy''' **'''Identify crystals pathognomonic of stone type.''' ==== <span style="color:#ff0000">Serum chemistries</span> ==== *'''<span style="color:#ff0000">Includes</span>''' *#'''<span style="color:#ff0000">Electrolytes (Na, K, Cl, HCO3)</span>''' *#'''<span style="color:#ff0000">Calcium</span>''' *#'''<span style="color:#ff0000">Uric acid</span>''' *#'''<span style="color:#ff0000">Creatinine</span>''' * May suggest underlying medical conditions associated with stone disease (e.g., primary hyperparathyroidism, gout, RTA type 1 or other metabolic derangements) * '''Assessment of underlying renal function is necessary''' ==== <span style="color:#ff0000">Parathyroid hormone (PTH)</span> ==== *'''<span style="color:#ff0000">Indicated as part of the screening evaluation if primary hyperparathyroidism is suspected</span>''' **'''<span style="color:#ff0000">Primary hyperparathyroidism should be suspected when (3):</span>''' **#Mid-range PTH despite '''<span style="color:#ff0000">high or high normal serum calcium</span>''' **#'''<span style="color:#ff0000">Increased urinary calcium</span>''' **#'''<span style="color:#ff0000">Predominantly calcium phosphate stone composition</span>''' *'''Measurement of vitamin D levels may be helpful as''' '''low vitamin D levels may mask primary hyperparathyroidism, or contribute to secondary hyperparathyroidism.''' *A high or high normal intact PTH in these settings should prompt further endocrine evaluation, imaging or referral for consideration of parathyroidectomy. ==== Stone composition, if available ==== *'''When a stone is available, a stone analysis should be obtained at least once.''' *Can direct metabolic investigation or potentially obviate the need for a complete metabolic evaluation *'''<span style="color:#ff0000">Calcium phosphate stone composition associated with:</span>''' *#'''<span style="color:#ff0000">RTA Type 1</span>''' *#'''<span style="color:#ff0000">Primary hyperparathyroidism</span>''' *#'''<span style="color:#ff0000">Medullary sponge kidney</span>''' *#'''<span style="color:#ff0000">Use of carbonic anhydrase inhibitors</span>''' === Imaging === * '''Obtain or review available imaging studies to quantify stone burden.''' '''<span style="color:#ff0000">[https://pubmed.ncbi.nlm.nih.gov/24857648/ β ]</span>''' === Metabolic/Extended Diagnostic Evaluation === * '''<span style="color:#ff0000">Consists of one or two 24-hour urine collections obtained on a random diet[https://pubmed.ncbi.nlm.nih.gov/24857648/ β ]</span>''' ==== Indications ==== *'''<span style="color:#ff0000">AUA (7):[https://pubmed.ncbi.nlm.nih.gov/24857648/ β ]</span>''' *#'''<span style="color:#ff0000">Recurrent stone formers</span>''' *#'''<span style="color:#ff0000">Family history of stone disease</span>''' *#'''<span style="color:#ff0000">Solitary kidney</span>''' *#'''<span style="color:#ff0000">Malabsorptive intestinal disease or resection</span>''' *#'''<span style="color:#ff0000">Obesity</span>''' *#'''<span style="color:#ff0000">Recurrent UTIs</span>''' *#'''<span style="color:#ff0000">Medical conditions predisposing to stones (e.g., RTA Type 1, primary hyperparathyroidism, gout, diabetes mellitus type)</span>''' *Included in other lists *# Pathological skeletal fractures *# Osteoporosis *# Infirm health (unable to tolerate repeat stone episodes) *# Anatomic abnormalities *# Stones composed of cystine, uric acid, and struvite *# Children should generally be evaluated because of concerns about renal damage and long-term sequelae of stone recurrence ==== 24-hour urine collections</span> ==== *Can be used to inform and monitor treatment protocols *'''<span style="color:#ff0000">Analyzed at minimum for (9): [https://pubmed.ncbi.nlm.nih.gov/24857648/ β ]</span>''' *#'''<span style="color:#ff0000">Volume</span>''' *#'''<span style="color:#ff0000">pH</span>''' *#'''<span style="color:#ff0000">Creatinine</span>''' *#'''<span style="color:#ff0000">Sodium</span>''' *#'''<span style="color:#ff0000">Potassium</span>''' *#'''<span style="color:#ff0000">Calcium</span>''' *#'''<span style="color:#ff0000">Oxalate</span>''' *#'''<span style="color:#ff0000">Uric acid</span>''' *#'''<span style="color:#ff0000">Citrate</span>''' *#'''In stone formers with known cystine stones or a family history of cystinuria or for those in whom cystinuria is suspected, urinary cystine should additionally be measured.''' *#Sulfate can be added to assess the volume of protein loading from animal meat * '''<span style="color:#ff0000">Assess adequacy of 24-hour urine collection, prior to interpretation of results''' **'''<span style="color:#ff0000">To assess the adequacy of collection, 24-hour urinary creatinine excretion should be considered</span>, taking into account patient gender and body weight (males 20-25mg/kg and females 15-20mg/kg in 24 hours),''' as well as patient recall of the start and end times of his or her collection ***'''Significant aberrations in total creatinine excretion from estimated volumes imply incomplete collection, overcollection, greater than expected muscle mass, or less than expected muscle mass''' **** For abnormally collected 24 hour urine collections, can divide metabolite excretion by creatinine excretion to compare collections *'''Markers of protein intake, such as urine urea nitrogen or urinary sulfate, are reflective of animal protein intake and can be used to assess dietary adherence'''. *Urinary potassium measured at baseline can be compared to urinary potassium obtained during follow-up to gauge compliance with medication regimens. *'''Primary hyperoxaluria should be suspected when urinary oxalate excretion > 75 mg/day in adults without bowel dysfunction. These patients should be considered for referral for genetic testing and/or specialized urine testing''' *Fast and calcium load testing should not be performed routinely to distinguish among types of hypercalciuria *If a patient with calcium urolithiasis uses calcium supplements, 24-hour urine samples should be collected on and off the supplement. **If urinary supersaturation of the calcium salt in question increases during the period of supplement use, the supplement should be discontinued.
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