URINARY Genetic, Developmental Flashcards
21-Hydroxylase Deficiency
One of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development. 21-hydroxylase deficiency is responsible for about 95 percent of all cases of congenital adrenal hyperplasia.
SYMPTOMS: Females with the non-classic type of 21-hydroxylase deficiency have normal female genitalia . As affected females get older, they may experience hirsutism, male pattern baldness, irregular menstruation, and decreased fertility. Males with the non-classic type may have early beard growth and small testes.
CAUSE: Genetic changes in the CYP21A2 gene and is inherited in an autosomal recessive pattern. Newborn screening is available in all 50 states of the US to test for this disorder at birth. The diagnosis is made based on the clinical symptoms, biochemical and genetic testing
Alport Syndrome
A genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys.
SYMPTOMS: Blood in the urine (hematuria), the most common and earliest sign of Alport syndrome.
Protein in the urine (proteinuria)
High blood pressure (hypertension)
Swelling in the legs, ankle, feet, and around the eyes (called edema)
CAUSE: An inherited form of kidney inflammation (nephritis). It is caused by a defect (mutation) in a gene for a protein in the connective tissue, called collagen. The disorder is rare.
Fanconi Syndrome
A disorder of the kidney tubes in which certain substances normally absorbed into the bloodstream by the kidneys are released into the urine instead.
SYMPTOMS: Peeing more than usual.
Dehydration.
Being thirstier than usual (polydipsia).
Pain in your bones.
Muscle weakness.
Bone weakness.
Bone fractures.
Well below average height (small stature).
CAUSE: faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in children are genetic defects that affect the body’s ability to break down certain compounds such as: Cystine (cystinosis)
Polycystic Kidney Disease (PKD)
An inherited disorder in which clusters of cysts develop primarily within your kidneys, causing your kidneys to enlarge and lose function over time. Cysts are noncancerous round sacs containing fluid. The cysts vary in size, and they can grow very large. Having many cysts or large cysts can damage your kidneys.
Polycystic kidney disease can also cause cysts to develop in your liver and elsewhere in your body. The disease can cause serious complications, including high blood pressure and kidney failure.
PKD varies greatly in its severity, and some complications are preventable. Lifestyle changes and treatments might help reduce damage to your kidneys from complications.
SYMPTOMS: High blood pressure
Back or side pain
Blood in your urine
A feeling of fullness in your abdomen
Increased size of your abdomen due to enlarged kidneys
Headaches
Kidney stones
Kidney failure
Urinary tract or kidney infections
CAUSE: Abnormal genes cause polycystic kidney disease, which means that in most cases, the disease runs in families. Sometimes, a genetic mutation occurs on its own (spontaneous), so that neither parent has a copy of the mutated gene.
The two main types of polycystic kidney disease, caused by different genetic flaws, are:
Autosomal dominant polycystic kidney disease (ADPKD). Signs and symptoms of ADPKD often develop between the ages of 30 and 40. In the past, this type was called adult polycystic kidney disease, but children can develop the disorder.
Only one parent needs to have the disease for it to pass to the children. If one parent has ADPKD, each child has a 50% chance of getting the disease. This form accounts for most of the cases of polycystic kidney disease.
Autosomal recessive polycystic kidney disease (ARPKD). This type is far less common than is ADPKD. The signs and symptoms often appear shortly after birth. Sometimes, symptoms don’t appear until later in childhood or during adolescence.
Both parents must have abnormal genes to pass on this form of the disease. If both parents carry a gene for this disorder, each child has a 25% chance of getting the disease.
Primary Vesicoureteral Reflux (VUR0
A defect in the valve that normally prevents urine from flowing backward from the bladder into the ureters.. the valve between the ureter and the bladder does not close well, so urine comes back up the ureter toward the kidney. If only one ureter and one kidney are affected, doctors call the VUR unilateral reflux. Primary VUR can get better or go away as a child gets older.
SYMPTOMS: A strong, persistent urge to urinate.
A burning sensation when urinating.
The need to pass small amounts of urine frequently.
Cloudy urine.
Fever.
Pain in your side (flank) or abdomen.
CAUSE: Failure of the bladder to empty properly, either due to a blockage or failure of the bladder muscle or damage to the nerves that control normal bladder emptying. Primary vesicoureteral reflux tends to run in families. Children whose parents had the condition are at higher risk of developing it. Siblings of children who have the condition also are at higher risk, so your doctor may recommend screening for siblings of a child with primary vesicoureteral reflux.
Renal Agenesis
A complete absence of one (unilateral) or both (bilateral) kidneys, whereas in renal aplasia the kidney has failed to develop beyond its most primitive form. In practice, renal agenesis and renal aplasia might be indistinguishable.
Children born with one kidney (unilateral renal agenesis) are often healthy, don’t have symptoms and don’t need treatment. However, they may develop problems like high blood pressure and kidney disease in adulthood. Newborns with no kidneys (bilateral renal agenesis) usually can’t survive outside the uterus. A gene mutation often causes renal agenesis.
SYMPTOMS: A child with no working kidneys and underdeveloped lungs (Potter syndrome) will have life-threatening respiratory problems soon after birth.
A child with one working kidney may not have symptoms. When symptoms occur, they include:
High blood pressure in children.
High protein levels in urine (proteinuria).
Vesicoureteral reflux (backflow of urine into the ureters).
Some children with unilateral renal agenesis also have:
Clubfoot.
Congenital heart conditions like atrial septal defects (ASD) or ventricular septal defects (VSD).
Congenital urological anomalies (birth defects that affect the genitals or urinary tract).
Imperforate anus or anal atresia (a missing anus at the end of the digestive tract).
CAUSE: A gene change or mutation causes many cases of renal agenesis. Researchers have identified at least seven different linked gene mutations. The gene mutation interferes with the fetal formation of the kidneys during the first trimester of pregnancy.
Less common causes include:
Gestational diabetes.
Multiple pregnancy (having twins, triplets or more).
Use of certain drugs during pregnancy.
Renal Glucosuria
A rare condition in which too much of the simple sugar glucose is removed through the urine. This happens even though there are normal or low levels of glucose in the blood. When the kidney is working correctly, glucose is only removed into the urine when there is too much in the blood.
SYMPTOMS: excessive urination (polyuria) and increased thirst (polydipsia), and excessive hunger and eating (polyphagia). Other complications may arise without proper treatment. Although the exact causes of diabetes mellitus are not known, genetic factors are thought to play some role.
CAUSE: The primary cause of renal glycosuria is a harmful change (mutation) in a gene known as “SLC5A2” (also called the renal sodium-glucose cotransporter gene). Many inheritance patterns have been reported for renal glycosuria, and more research is needed to clarify the pattern of inheritance.
