Condition Lookup
Number of Conditions: 6
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
Specialty: Nephrology
Category: Hereditary and Congenital Kidney Disorders
Symptoms:
abnormal kidney structure; frequent urinary tract infections; reduced urine output; high blood pressure; swelling in the body (edema)
Root Cause:
Congenital malformations affecting the kidneys, ureters, bladder, or urethra during fetal development.
How it's Diagnosed: videos
Prenatal ultrasounds, postnatal imaging (ultrasound, CT, or MRI), blood tests for kidney function, and urine tests for protein or infection.
Treatment:
Management depends on the specific anomaly; surgical correction, antibiotics for infections, and monitoring kidney function are common approaches.
Medications:
Antibiotics (e.g., trimethoprim-sulfamethoxazole) to prevent urinary tract infections, antihypertensives (e.g., ACE inhibitors) to control blood pressure.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 500 live births globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of kidney anomalies, maternal diabetes, and certain genetic mutations.
Prognosis:
The expected outcome or course of the condition over time.
Varies widely depending on the severity; many cases are manageable, but severe anomalies may lead to chronic kidney disease.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic kidney disease, recurrent infections, and hypertension.
Medullary Sponge Kidney (MSK)
Specialty: Nephrology
Category: Hereditary and Congenital Kidney Disorders
Symptoms:
blood in urine (hematuria); frequent kidney stones; urinary tract infections; flank pain; increased urinary frequency
Root Cause:
Malformation of the collecting ducts in the kidneys, leading to cystic dilations and impaired urine flow.
How it's Diagnosed: videos
Imaging studies, especially CT scans or intravenous pyelograms (IVP), along with urine analysis for stones or infections.
Treatment:
Managing symptoms, preventing infections, and reducing kidney stone formation through dietary modifications and hydration.
Medications:
Potassium citrate (to prevent kidney stones), antibiotics (e.g., ciprofloxacin ) for UTIs, and pain relievers (e.g., acetaminophen ).
Prevalence:
How common the health condition is within a specific population.
Affects about 1 in 5,000 to 20,000 people.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, metabolic disorders leading to stone formation.
Prognosis:
The expected outcome or course of the condition over time.
Typically good with proper management; rarely progresses to kidney failure.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Recurrent infections, chronic pain, and kidney damage due to obstructive stones.
Nephronophthisis
Specialty: Nephrology
Category: Hereditary and Congenital Kidney Disorders
Symptoms:
excessive thirst and urination; growth retardation; fatigue; anemia; progressive kidney failure
Root Cause:
Genetic disorder leading to fibrosis and cyst formation in the kidneys, impairing function.
How it's Diagnosed: videos
Genetic testing, kidney ultrasound, and biopsy showing interstitial fibrosis and tubular atrophy.
Treatment:
Supportive care, addressing symptoms, and eventual dialysis or kidney transplant.
Medications:
Erythropoietin-stimulating agents (for anemia), antihypertensives (e.g., losartan ) for blood pressure control.
Prevalence:
How common the health condition is within a specific population.
Rare; approximately 1 in 50,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autosomal recessive inheritance; family history.
Prognosis:
The expected outcome or course of the condition over time.
Progressive condition leading to kidney failure typically by adolescence or early adulthood.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
End-stage renal disease, requiring dialysis or transplantation.
Bartter Syndrome
Specialty: Nephrology
Category: Hereditary and Congenital Kidney Disorders
Symptoms:
polyuria; polydipsia; dehydration; muscle weakness; growth delay in children
Root Cause:
Genetic defect in renal tubules causing electrolyte imbalance (low potassium, high calcium excretion).
How it's Diagnosed: videos
Blood tests for electrolytes, urine analysis, and genetic testing.
Treatment:
Correcting electrolyte imbalances, managing dehydration, and nutritional support.
Medications:
Potassium supplements, aldosterone antagonists (e.g., spironolactone ), and NSAIDs (e.g., indomethacin ) to reduce electrolyte loss.
Prevalence:
How common the health condition is within a specific population.
Rare, estimated 1 in 1,000,000 individuals.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autosomal recessive inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Good with appropriate management, though chronic kidney disease may occur.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Kidney damage, failure to thrive in children, and chronic dehydration.
Gitelman Syndrome
Specialty: Nephrology
Category: Hereditary and Congenital Kidney Disorders
Symptoms:
muscle cramps; fatigue; salt craving; low blood pressure; tetany (muscle spasms)
Root Cause:
Genetic defect affecting the renal tubules, leading to low potassium and magnesium levels and reduced blood pressure.
How it's Diagnosed: videos
Blood tests for electrolytes, urine analysis, and genetic testing.
Treatment:
Electrolyte supplementation and dietary adjustments.
Medications:
Potassium and magnesium supplements, NSAIDs (e.g., indomethacin ) for symptom control.
Prevalence:
How common the health condition is within a specific population.
Rare; estimated 1 in 40,000 people.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autosomal recessive inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Excellent with lifelong supplementation and monitoring.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Muscle weakness, cardiac arrhythmias due to electrolyte imbalances.
Liddle Syndrome
Specialty: Nephrology
Category: Hereditary and Congenital Kidney Disorders
Symptoms:
high blood pressure; low potassium levels; fatigue; muscle weakness; metabolic alkalosis
Root Cause:
Genetic mutation causing the kidneys to retain too much sodium and excrete too much potassium.
How it's Diagnosed: videos
Blood tests for electrolytes, genetic testing, and clinical history of hypertension at a young age.
Treatment:
Sodium restriction and potassium-sparing diuretics.
Medications:
Potassium-sparing diuretics (e.g., amiloride , triamterene ).
Prevalence:
How common the health condition is within a specific population.
Extremely rare; exact prevalence unknown.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Good with early diagnosis and treatment; untreated cases may lead to severe cardiovascular issues.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe hypertension, hypokalemia, and cardiovascular disease.