10 Questions
What is the primary mechanism of damage in glomerulonephritis, and what is the consequence of this damage?
Immune-mediated inflammation of the glomeruli, which can lead to renal failure.
Describe the difference between azotemia and hydronephrosis, and provide an example of when each might occur.
Azotemia is the accumulation of nitrogenous waste products in the blood, often indicative of renal failure, while hydronephrosis is the swelling of the kidneys due to obstruction of the urinary tract. Azotemia might occur in chronic kidney disease, while hydronephrosis might occur in cases of kidney stones or tumors.
What is the most common cause of acute kidney injury, and how can it be treated?
Renal tubular necrosis, which can be treated with appropriate fluid management, electrolyte correction, and removal of the underlying cause.
Compare and contrast polycystic kidney disease with simple cysts in the kidney, including their causes and consequences.
Polycystic kidney disease is a genetic disorder characterized by the growth of multiple cysts in the kidneys, which can lead to chronic kidney disease, while simple cysts are non-inherited, fluid-filled sacs that do not typically cause symptoms. Polycystic kidney disease is a more serious condition that requires ongoing monitoring and treatment.
What is the most serious complication of urinary tract obstruction, and how can it be treated?
Hydronephrosis, which can be treated with surgical or endoscopic intervention to relieve the obstruction.
Describe the difference between pyelonephritis and cystitis, including their causes and symptoms.
Pyelonephritis is a bacterial infection of the kidneys, characterized by fever, back pain, and nausea, while cystitis is a bacterial infection of the bladder, characterized by burning during urination, frequent urination, and pelvic pain.
What is the role of lithotripsy in the treatment of kidney stones, and how does it work?
Lithotripsy is a non-invasive procedure used to break down kidney stones into smaller, more easily excreted fragments, using shock waves or ultrasound to fragment the stones.
Compare and contrast glomerulonephritis with renal tubular necrosis, including their causes and consequences.
Glomerulonephritis is an immune-mediated inflammation of the glomeruli, leading to permanent damage, while renal tubular necrosis is a type of acute kidney injury, often caused by ischemia or toxins, which can be reversible with appropriate treatment.
What is the relationship between proteinuria and renal failure, and how can proteinuria be treated?
Proteinuria is a sign of kidney damage, often indicative of renal failure, and can be treated with medications to reduce proteinuria, such as ACE inhibitors or ARBs, and lifestyle changes to control blood pressure and blood sugar.
Describe the difference between haematuria and hydronephrosis, including their causes and symptoms.
Haematuria is the presence of blood in the urine, often caused by kidney stones, tumors, or inflammation, while hydronephrosis is the swelling of the kidneys due to obstruction of the urinary tract. Haematuria is a symptom of kidney disease, while hydronephrosis is a condition that can lead to kidney damage.
Study Notes
Congenital Diseases
- A congenital disease is a condition present at birth, often caused by a genetic defect or inherited from a parent.
- TORCH is an acronym for a group of diseases that can cause congenital malformations when the fetus is exposed in utero, including Toxoplasmosis, Rubella, Cytomegalovirus, and Herpes simplex virus.
Congenital Malformations
- Maternal rubella infection during the first 11 weeks of pregnancy can cause Congenital Rubella Syndrome, mental retardation, cardiac defects, and other complications.
- Thalidomide exposure during pregnancy is known to cause severe birth defects, including amelia (absence of limbs).
- Amniotic band syndrome is a mechanical cause of congenital malformations, caused by ischemia due to amniotic band entanglement.
- Oligohydramnios, a condition characterized by low amniotic fluid, can lead to limb deformities, hypoplasia (underdevelopment of organs), and premature delivery.
Chromosomal Abnormalities
- The most common type of chromosomal abnormality is nondisjunction, often caused by maternal age.
- Down syndrome is caused by a trisomy (an extra chromosome), specifically an extra copy of chromosome 21.
- Klinefelter syndrome is caused by an extra X chromosome in males.
Genetic Disorders
- Cystic fibrosis is an example of an autosomal recessive inheritance pattern.
- Haemophilia is an X-linked recessive genetic disorder characterized by a deficiency in clotting factors.
- The "central dogma" of molecular biology describes the flow of genetic information: DNA → RNA → Protein.
Inflammation and Anatomical Pathology
- The primary goal of inflammation is to repair damaged tissue and restore normal function.
- The cardinal signs of inflammation are redness, heat, swelling, and pain.
- Chronic inflammation can occur when the causative agent is not eradicated or the inflammatory response is inappropriately directed.
- Anatomical pathology focuses on identifying potential pathological changes in tissues and organs, understanding the systemised nomenclature of pathology, and appreciating the physical changes that occur during disease manifestation.
Inheritance Patterns
- Autosomal dominant inheritance patterns are characterized by a single allele causing the disease phenotype.
- Autosomal recessive inheritance patterns require two copies of the mutated allele to express the disease phenotype.
- X-linked dominant and recessive inheritance patterns are associated with genes located on the X chromosome.
- Codominant inheritance is characterized by both alleles of a gene being fully expressed in the heterozygous state.
- Penetrance is the proportion of individuals with a specific mutation who actually develop the associated disease.
Kidney Diseases
- The functional unit of the kidney responsible for filtering blood and producing urine is the nephron.
- Nephrotic syndrome is characterized by proteinuria, haematuria, and oedema.
- Azotemia is the accumulation of nitrogenous waste products in the blood, often indicative of renal failure.
- Glomerulonephritis is characterized by immune-mediated inflammation of the glomeruli.
- Acute kidney injury can be caused by renal tubular necrosis, often reversible with appropriate treatment.
Quiz about congenital diseases, their causes and examples, including teratogens and TORCH complex.
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