Nephrolithiasis
Disease Details
Family Health Simplified
- Description
- Nephrolithiasis, commonly known as kidney stones, is a condition where hard mineral and salt deposits form in the kidneys and can cause severe pain and urinary issues.
- Type
- Nephrolithiasis, also known as kidney stones, typically shows multifactorial inheritance. This means that both genetic predispositions and environmental factors contribute to the risk of developing the condition. There is no single pattern of genetic transmission, but studies have identified several genetic variants associated with increased susceptibility to kidney stones.
- Signs And Symptoms
- The hallmark of a stone that obstructs the ureter or renal pelvis is excruciating, intermittent pain that radiates from the flank to the groin or to the inner thigh. This is due to the transfer of referred pain signals from the lower thoracic splanchnic nerves to the lumbar splanchnic nerves as the stone passes down from the kidney or proximal ureter to the distal ureter. This pain, known as renal colic, is often described as one of the strongest pain sensations known. Renal colic caused by kidney stones is commonly accompanied by urinary urgency, restlessness, hematuria, sweating, nausea, and vomiting. It typically comes in waves lasting 20 to 60 minutes caused by peristaltic contractions of the ureter as it attempts to expel the stone.The embryological link between the urinary tract, the genital system, and the gastrointestinal tract is the basis of the radiation of pain to the gonads, as well as the nausea and vomiting that are also common in urolithiasis. Postrenal azotemia and hydronephrosis can be observed following the obstruction of urine flow through one or both ureters.Pain in the lower-left quadrant can sometimes be confused with diverticulitis because the sigmoid colon overlaps the ureter, and the exact location of the pain may be difficult to isolate due to the proximity of these two structures.
- Prognosis
- Nephrolithiasis, commonly known as kidney stones, generally has a good prognosis with proper treatment. The stones can often pass on their own, especially if they are small. Treatments can include pain management, increased fluid intake, and medications to facilitate stone passage. In cases where stones are too large to pass naturally, medical procedures such as lithotripsy or surgical removal may be required. Timely and appropriate management typically results in a favorable outcome, although there is a risk of recurrence. Regular follow-up and lifestyle adjustments can help in preventing future stones.
- Onset
- Nephrolithiasis, commonly known as kidney stones, can have a sudden onset. Symptoms often begin when a stone moves into the ureter, causing severe pain often described as sharp, cramping, and occurring in the back and side, below the ribs. The pain may radiate to the lower abdomen and groin.
- Prevalence
- The prevalence of nephrolithiasis (kidney stones) varies by region, diet, and other risk factors. In the United States, it is estimated that approximately 9-12% of the population will experience kidney stones at some point in their lifetime. The prevalence tends to be higher in men than in women and typically peaks between the ages of 30 and 50.
- Epidemiology
- Kidney stones affect all geographical, cultural, and racial groups. The lifetime risk is about 10-15% in the developed world, but can be as high as 20-25% in the Middle East. The increased risk of dehydration in hot climates, coupled with a diet 50% lower in calcium and 250% higher in oxalates compared to Western diets, accounts for the higher net risk in the Middle East. In the Middle East, uric acid stones are more common than calcium-containing stones. The number of deaths due to kidney stones is estimated at 19,000 per year being fairly consistent between 1990 and 2010.In North America and Europe, the annual number of new cases per year of kidney stones is roughly 0.5%. In the United States, the frequency in the population of urolithiasis has increased from 3.2% to 5.2% from the mid-1970s to the mid-1990s. In the United States, about 9% of the population has had a kidney stone.The total cost for treating urolithiasis was US$2 billion in 2003. About 65–80% of those with kidney stones are men; most stones in women are due to either metabolic defects (such as cystinuria) or infections in the case of struvite stones. Urinary tract calculi disorders are more common in men than in women. Men most commonly experience their first episode between 30 and 40 years of age, whereas for women, the age at first presentation is somewhat later. The age of onset shows a bimodal distribution in women, with episodes peaking at 35 and 55 years. Recurrence rates are estimated at 50% over a 10-year and 75% over 20-year period, with some people experiencing ten or more episodes over the course of a lifetime.A 2010 review concluded that rates of disease are increasing.
- Intractability
- Nephrolithiasis, or kidney stones, is generally not considered intractable. Many cases can be managed and treated effectively with medication, lifestyle changes, and minimally invasive procedures like lithotripsy or ureteroscopy. However, recurrent or complicated cases can be more challenging to treat and may require ongoing management.
- Disease Severity
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Nephrolithiasis, commonly known as kidney stones, can vary in severity:
- Mild: Small stones that may pass on their own with minimal discomfort.
- Moderate: Stones that cause significant pain, possibly requiring intervention like medication to assist in passing them.
- Severe: Large stones or complications such as infection, obstruction, or kidney damage, often necessitating surgical or other medical interventions.
Severity is influenced by factors like stone size, stone location, and patient health. - Healthcare Professionals
- Disease Ontology ID - DOID:585
- Pathophysiology
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Nephrolithiasis, commonly known as kidney stones, involves the formation of hard mineral and salt deposits within the kidneys.
Pathophysiology:
1. Supersaturation: Stones form when urine becomes supersaturated with stone-forming substances such as calcium, oxalate, and uric acid.
2. Nucleation: Supersaturated urine promotes the formation of crystal nuclei, which aggregate to form larger stones.
3. Growth: Crystals combine and grow within the renal tubules or collecting system.
4. Retention: Crystals and stones can become lodged in various parts of the urinary tract, causing obstruction, pain, and potential urinary infections.
Key factors contributing to nephrolithiasis include dehydration, dietary choices, genetic predisposition, and certain metabolic conditions. - Carrier Status
- Nephrolithiasis, commonly known as kidney stones, is not a condition associated with a carrier status. It is a condition characterized by the formation of hard deposits composed of minerals and salts inside the kidneys. Factors such as genetic predisposition, diet, certain medical conditions, and lifestyle choices can contribute to the development of kidney stones. However, it is not inherited in a carrier state like some genetic disorders.
- Mechanism
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Nephrolithiasis, commonly known as kidney stones, is a condition characterized by the formation of solid calculi in the kidneys from dissolved urinary minerals. Here's an overview of its mechanism and molecular mechanisms:
### Mechanism:
1. **Supersaturation of Urine**: Kidney stones form when certain substances in urine—typically calcium, oxalate, and uric acid—become highly concentrated and precipitate out of solution.
2. **Nucleation**: The process begins with nucleation, where tiny particles act as a nucleus around which minerals start to crystallize.
3. **Crystal Growth and Aggregation**: Once nucleation occurs, the crystals can grow larger and aggregate, forming a solid mass.
4. **Retention**: These solid masses can be retained in the kidney tubules or renal pelvis, leading to clinical nephrolithiasis.
### Molecular Mechanisms:
1. **Calcium Oxalate Formation**:
- **Regulatory Proteins**: Proteins like osteopontin, Tamm-Horsfall protein, and nephrocalcin can influence crystal formation and growth.
- **Oxalate Metabolism**: Glyoxylate metabolism pathways can lead to the production of oxalate, a major component of the most common type of kidney stones.
2. **Hypercalciuria**:
- **Calcium-Sensing Receptor (CaSR)**: Dysregulation of CaSR in the renal tubules affects calcium reabsorption, leading to increased urinary calcium levels.
- **Parathyroid Hormone (PTH)**: Elevated PTH levels can increase calcium release from bones and decrease renal calcium reabsorption, contributing to hypercalciuria.
3. **Uric Acid Stones**:
- **Low Urine pH**: Uric acid is sparingly soluble in acidic conditions, so lower urine pH leads to precipitation of uric acid crystals.
- **Uric Acid Metabolism**: Genetic mutations affecting enzymes like xanthine oxidase can increase uric acid production.
4. **Cystine Stones**:
- **Cystinuria**: This is due to a genetic defect in the transport proteins (such as SLC3A1 and SLC7A9) that reabsorb cystine in the kidney, leading to elevated urinary cystine levels.
By understanding these mechanisms, it becomes evident how various factors such as diet, genetics, and metabolic disorders contribute to the development of kidney stones. - Treatment
- Stone size influences the rate of spontaneous stone passage. For example, up to 98% of small stones (less than 5 mm (0.2 in) in diameter) may pass spontaneously through urination within four weeks of the onset of symptoms, but for larger stones (5 to 10 mm (0.2 to 0.4 in) in diameter), the rate of spontaneous passage decreases to less than 53%. Initial stone location also influences the likelihood of spontaneous stone passage. Rates increase from 48% for stones located in the proximal ureter to 79% for stones located at the vesicoureteric junction, regardless of stone size. Assuming no high-grade obstruction or associated infection is found in the urinary tract, and symptoms are relatively mild, various nonsurgical measures can be used to encourage the passage of a stone. Repeat stone formers benefit from more intense management, including proper fluid intake and use of certain medications, as well as careful monitoring.
- Compassionate Use Treatment
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For nephrolithiasis, or kidney stones, details related to compassionate use treatments and off-label or experimental treatments are as follows:
1. **Compassionate Use Treatments:**
- Compassionate use treatments are typically considered for severe or life-threatening cases where standard treatments have failed, and the patient has exhausted all approved therapies.
- In exceptional cases, certain experimental drugs or therapies might be made available through compassionate use programs, but there's no widely recognized compassionate use treatment specifically for nephrolithiasis. The treating healthcare provider would need to make a special request to relevant regulatory bodies or pharmaceutical companies.
2. **Off-label or Experimental Treatments:**
- **Tamsulosin**: Primarily used for benign prostatic hyperplasia, tamsulosin can be prescribed off-label to help facilitate the passage of kidney stones by relaxing the muscles in the urinary tract.
- **Nifedipine**: A calcium channel blocker used for hypertension; sometimes used off-label for stone passage.
- **Chemolysis**: The experimental use of certain chemicals to dissolve stones directly within the kidney. For example, oral agents like citrate supplements can help prevent stone formation or reduce stone size, but are not commonplace for acute management.
- **Ureteral Stents**: Though a standard procedure, in experimental contexts, they may be used with novel coatings or materials to prevent stone formation.
- **Lithotripsy Enhancements**: Improvements or experimental modifications in shockwave lithotripsy or laser lithotripsy techniques aimed at better targeting or breaking down kidney stones.
Any use of these off-label or experimental treatments should be carefully monitored by a healthcare provider, and detailed discussions about risks and benefits are essential. - Lifestyle Recommendations
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Here are some lifestyle recommendations for managing and preventing nephrolithiasis (kidney stones):
1. **Hydration**: Drink plenty of fluids, especially water. Aim for at least 2-3 liters per day to help dilute urine and prevent stone formation.
2. **Diet**:
- **Limit salt intake**: High sodium can increase calcium in urine, promoting stone formation.
- **Reduce oxalate-rich foods**: Such as spinach, nuts, and tea, especially if you have calcium oxalate stones.
- **Moderate protein intake**: Excessive protein can increase stone risk, particularly from animal sources.
- **Calcium intake**: Consume an adequate amount of dietary calcium. Too little can increase oxalate levels, while too much can lead to stone formation.
3. **Limit sugar and sugary drinks**: Especially those high in fructose, which can increase stone risk.
4. **Maintain a healthy body weight**: Obesity can increase the risk of kidney stones.
5. **Exercise regularly**: Physical activity can help maintain a healthy weight and reduce stone risk.
These lifestyle changes can help reduce the recurrence of kidney stones and promote overall kidney health. Always consult with a healthcare provider for personalized advice. - Medication
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For nephrolithiasis (kidney stones), several medications may be prescribed to manage pain, facilitate stone passage, or prevent recurrence. Common medications include:
1. **Pain Relief:**
- Nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen.
- Narcotics, such as hydrocodone or oxycodone, for severe pain.
2. **Facilitating Stone Passage:**
- Alpha-blockers, such as tamsulosin, to relax the muscles in the ureter.
3. **Preventing Recurrence:**
- Thiazide diuretics, for patients with calcium stones, to reduce calcium levels in urine.
- Allopurinol, for uric acid stones, to reduce uric acid levels.
- Potassium citrate, to alkalinize urine and prevent stone formation.
Always consult a healthcare provider for personalized medical advice. - Repurposable Drugs
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Nephrolithiasis, commonly known as kidney stones, can potentially be managed with several repurposed drugs originally approved for other conditions. Some of these drugs include:
1. **Alpha-blockers (e.g., tamsulosin)** - Originally used for treating benign prostatic hyperplasia, they can help relax the muscles in the urinary tract to facilitate the passage of kidney stones.
2. **Calcium channel blockers (e.g., nifedipine)** - Typically used for hypertension, they may assist in the smooth muscle relaxation of the ureter to ease stone passage.
3. **Allopurinol** - Primarily used for gout, it can reduce uric acid levels and prevent the formation of uric acid stones.
4. **Thiazide diuretics (e.g., hydrochlorothiazide)** - Used for hypertension, thiazides can decrease calcium concentration in the urine, reducing the risk of calcium stone formation.
These drugs are used based on their ability to address specific symptoms or underlying conditions related to nephrolithiasis. - Metabolites
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Nephrolithiasis, commonly known as kidney stones, involves the formation of hard deposits composed of minerals and salts within the kidneys. Key metabolites involved in nephrolithiasis include:
1. **Calcium**: Most kidney stones consist of calcium oxalate or calcium phosphate. Hypercalciuria (elevated calcium in urine) is a significant risk factor.
2. **Oxalate**: Oxalate binds with calcium to form calcium oxalate stones. Hyperoxaluria (elevated oxalate in urine) increases the risk of stone formation.
3. **Uric Acid**: High levels of uric acid can form uric acid stones. Hyperuricosuria (elevated uric acid in urine) is a contributing factor.
4. **Cystine**: Cystinuria, a genetic disorder, leads to elevated levels of cystine in the urine, resulting in cystine stones.
5. **Phosphate**: Elevated phosphate levels can contribute to the formation of calcium phosphate stones.
Monitoring these metabolites can help in the diagnosis and prevention of kidney stones. - Nutraceuticals
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Nephrolithiasis, commonly known as kidney stones, may benefit from certain nutraceuticals that support urinary health and potentially reduce stone formation. Some examples include:
1. **Citrate supplements:** Potassium citrate can help prevent stone formation by alkalinizing urine.
2. **Magnesium:** May inhibit stone formation, particularly when combined with citrate.
3. **Vitamin B6 (Pyridoxine):** Can reduce oxalate production, a common component of certain types of kidney stones.
4. **Fish oil (Omega-3 fatty acids):** May reduce inflammation and lower the risk of stone formation.
Regular consultation with a healthcare provider is recommended before starting any nutraceutical regimen for nephrolithiasis. - Peptides
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Peptides are short chains of amino acids linked by peptide bonds. They are not directly related to the formation or treatment of nephrolithiasis, also known as kidney stones. However, certain peptides might have indirect effects on kidney function or stone formation through their roles in bodily processes.
Nan refers to nanotechnology, which involves the manipulation of matter on an atomic or molecular scale. In the context of nephrolithiasis, nanotechnology is being explored for its potential in improving imaging techniques for detecting kidney stones, as well as developing new treatment methods, such as targeted drug delivery systems to prevent stone formation or assist in stone dissolution.