Congenital Adrenal Hyperplasia (CAH) Health Feed

CAKUT or Congenital Anomalies of the Kidney and Urinary Tract is a group of simple to life-threatening malfunction or malformation of the ureters, kidney, bladders, testis, penis or female genitalia. These malformations are present from the birth when the genital or urinary system of the fetal starts developing.

In young children, this kind of malformations can lead to renal transplantations and kidney failures. The primary cause of this kind of congenital problem with the urinary tract is genetic while other possible cause can be due to the environment.

Some of the most common Congenital problems with the urinary tract are:

1. Bladder Exstrophy: One of the most common congenital problems in children is bladder malformation. In this case, the bladder is flattened in shape and not round. So it will be exposed on the abdominal walls. This, in turn, will result in widely separated pelvic bones. Thus the function of female genitalia, penis and prostate will be affected. There are different types of Exstrophy and surgeries required for correcting them.
2. Undescended Testes: Usually, in the abdomen area, the testicles are formed. After the formation, they pass from the abdominal wall muscles and twist to the local place. This happens in the last few weeks of the pregnancy and is seen only in 5 percent of full-grown boys. Most of the times, testicles fall to the normal place in the first 6 months of their life. Any abnormality in the testicles or missing testicles can be due to problems in the testicular blood vessels or due to loss of blood flow to that particular area. Surgical and nonsurgical therapies like hormone management can be used to treat this kind of congenital problem.
3. Vesicoureteral Reflux: The Ureter is the tube in the human body that carries the urine from the kidneys to the bladder. When there is Vesicoureteral Reflux problem, then the urine flows back in the ureter. When the reflux of urine takes place, then that will get detained in that area and can cause damage to the kidneys. There are basically two types of Vesicoureteral Reflux and the primary condition is congenital problems. This problem can also be treated with the help of surgical and nonsurgical methods.
4. Hydronephrosis: Another very common congenital problem with the urinary tract in children is Hydronephrosis. The flow of the urine from the kidney can be prevented by any obstruction. This obstruction can result in fluids getting filled in the organs. There can be many disorders or problems associated such as Multicystic Dysplastic Kidney, Posterior Urethral Valve, Ureteropelvic Junction Obstruction and Idiopathic Hydronephrosis. There can be many other problems also associated along with these.

Congenital Heart Disease refers to a problem in the structure of heart that is present at birth. It is one of the most common types of birth defect. The defects can arise at the walls of the heart, the valves of the heart and could also take place at the arteries and veins close to the heart. The disease causes great impact in changing the normal flow of blood through the heart.There are many different types of congenital heart defects, ranging from simple ones having no symptoms to complex defects, which are severe and life-threatening symptoms.

Symptoms

• Congenital heart defect generally is detected in women at the time of ultrasound during pregnancy. In case the doctor comes across abnormal heartbeat, he may further investigate by conducting certain tests in the form of echocardiogram, chest X-ray or MRI scan.
• This problem might be seen even in newborn babies, due to which they might experience:
  • Skin, fingers, lips and toes which are bluish in colour
  • Experience problem breathing
  • Low weight at the time of birth
  • Chest Pain

There might be other symptoms as well, which may not develop till many years after birth. The symptoms are:

• Abnormal heart rate
• Dizziness
• Frequesnt dizziness
• Swelling might be seen at certain parts of the body

Causes behind congenital heart disease

Developmental problem in the heart’s structure at an early stage is usually the reason behind congenital heart disease. This defect acts a hindrance to the normal flow of blood through the heart, thus affecting people’s breathing to some extent. Though there is no surety as to why there is a problem in the development of heart, some of the suspected causes are:

• Any of the family members might be having heart problems.
• Some prescribed drugs at the time of pregnancy tend to put a child at a higher risk for developing this problem of congenital heart disease.
• Consumption of alcohol or if you take drugs which are not prescribed by doctor during pregnancy, can lead to an increase in the risk of a child getting diagnosed with a heart defect.
• Women who have had viral infection during the first three months of pregnancy are more susceptible towards giving birth to children having heart defects.

How to treat congenital heart disease?

Like any other heart disease, treatment for congenital heart disease also depends on the type and extent of the defect.

• There are certain medicines which allow the heart for function more efficiently, while others can be used to prevent blood clots from forming and also put a check on irregular heartbeat.
• Implantable heart devices like implantable cardioverter defibrillators can prevent this particular defect by regularising an abnormal heart rate.
• Catheter procedure followed by doctors where they insert a thin tube into a vein in the leg and move up to the heart, then use small tool by threading through the catheter to rectify the defect.
• Some rare cases, when the heart disease is too complex to fix, doctor may form heart transplant surgery.

Most families refer to their newborn baby as their 'bundle of joy'. The news of a child being born brings immense joy to the entire family. However, due to various reasons, a child could be born with some medical abnormalities, which would be known as congenital abnormalities. There are several different types of heart defects that can be congenital. These usually manifest themselves either immediately after birth or in the early years of life. In some cases, the abnormality could be detected on prenatal ultrasounds. In others, it may not be and the family could be caught off guard about the condition. This causes a lot of stress, both for the child, who does not receive regular postnatal care and for the parents immediately after the delivery process.

If the baby has the following symptoms within the first few hours of life, there could be a serious underlying condition, which requires medical attention. The presence and severity of the symptoms would depend on the actual abnormality.

1. The skin is pale gray or blue in color due to excessive venous flow in the system
2. Excessive sweating
3. The child is exerting to breathe regularly
4. Rapid breathing causes added load on the heart accompanied by a grunting noise
5. Flared nostrils i.e. the baby attempts to take in more oxygen with each breath causes flared nostrils
6. Swollen legs, eyes, and abdomen: Fluid retention in the legs and abdomen is quite common, and this could be characteristic of newborns with congenital heart disease
7. Shortness of breath, even during feeding
8. Clubbed fingernails
9. Lethargy and low energy, even with feeding, therefore very poor feeding pattern
10. Chest pain, which may cause the newborn to cry incessantly
11. Low weight gain, as they feed less

In some children, symptoms manifest only during the teenage years or early adulthood. These conditions are not very severe and the symptoms include:

1. Swelling of the hands, feet, and ankles due to fluid accumulation
2. Lowered energy levels, leading to easy fatigue
3. Shortness of breath with even minimal physical activity
4. Inability to exercise
5. Developmental delays and changes in growth milestones
6. Recurrent respiratory tract infections including sinus infections, bronchitis, and pneumonia
7. Endocarditis
8. Pulmonary hypertension
9. Heart failure, where the heart is not able to effectively function and pump blood to all parts of the body.

Some or more of these symptoms should trigger a warning to get the child tested for congenital heart disease. While some would just require a monitoring until severe symptoms develop, severe conditions like holes, abnormal valves, narrowed arteries, and blood vessel abnormalities might require immediate intervention.

As the name suggests, congenital nephrotic syndrome affects the kidneys of newborn babies. Though congenital means the disease must be present from birth, babies who develop nephrotic syndrome in the first three months are also said to suffer from this condition. This is a rare genetic disorder that is passed down from parents to their children. Boys are at a higher risk of suffering from this disorder than girls. The congenital nephrotic syndrome causes the kidneys to leak large amounts of protein into the baby’s urine. This can lead to swelling of the body tissues and a weakened immune system.

Some of the common symptoms of this disease include

1. Low birth weight
2. Lack of appetite
3. Swelling of the body
4. Foamy or frothy urine
5. Lowered urine production
6. Cough

Pregnant women are usually screened for this condition before the baby is born. The doctor will be looking for a placenta that is larger than normal in an ultrasound and high levels of alpha fetoprotein in amniotic fluid samples. If found; the doctor might ask for a genetic test to confirm the diagnosis.

Once the baby is born, he or she will show signs of fluid retention as the body begins to swell. Other signs your doctor will look out for are high blood pressure, signs of malnutrition and abnormal sounds from the heart and lungs. A urine analysis will also show high levels of protein in the urine though the overall protein levels in the body may be low. The doctor may also ask for a kidney biopsy in some cases to confirm the diagnosis.

Aggressive forms of treatment in the early stages of this disease can help control it. This may include antibiotics, blood pressure medication, ACE inhibitors and angiotensin receptor blockers to reduce protein leakage and diuretics to manage excess fluid build-up. Nonsteroidal anti-inflammatory drugs may also help reduce the amount of protein leaking into the urine. In addition, the doctor may advise you to limit fluid the baby’s fluid intake to control the swelling. As a last resort, the kidneys may need to be removed to prevent protein loss. This will be followed by dialysis or a kidney transplant.

If left unchecked, this disorder can lead to a number of complications including acute kidney failure, blood clots, infections and diseases related to malnutrition. It can also lead to the death of a baby in the first year of catching the infection or before his or her fifth birthday.

In case you have a concern or query you can always consult an expert & get answers to your questions!

Most families refer to their newborn baby as their 'bundle of joy'. The news of a child being born brings immense joy to the entire family. However, due to various reasons, a child could be born with some medical abnormalities, which would be known as congenital abnormalities. There are several different types of heart defects that can be congenital. These usually manifest themselves either immediately after birth or in the early years of life. In some cases, the abnormality could be detected on prenatal ultrasounds. In others, it may not be and the family could be caught off guard about the condition. This causes a lot of stress, both for the child, who does not receive regular postnatal care and for the parents immediately after the delivery process.

If the baby has the following symptoms within the first few hours of life, there could be a serious underlying condition, which requires medical attention. The presence and severity of the symptoms would depend on the actual abnormality.

1. The skin is pale gray or blue in color due to excessive venous flow in the system
2. Excessive sweating
3. The child is exerting to breathe regularly
4. Rapid breathing causes added load on the heart accompanied by a grunting noise
5. Flared nostrils i.e. the baby attempts to take in more oxygen with each breath causes flared nostrils
6. Swollen legs, eyes, and abdomen: Fluid retention in the legs and abdomen is quite common, and this could be characteristic of newborns with congenital heart disease
7. Shortness of breath, even during feeding
8. Clubbed fingernails
9. Lethargy and low energy, even with feeding, therefore very poor feeding pattern
10. Chest pain, which may cause the newborn to cry incessantly
11. Low weight gain, as they feed less

In some children, symptoms manifest only during the teenage years or early adulthood. These conditions are not very severe and the symptoms include:

1. Swelling of the hands, feet, and ankles due to fluid accumulation
2. Lowered energy levels, leading to easy fatigue
3. Shortness of breath with even minimal physical activity
4. Inability to exercise
5. Developmental delays and changes in growth milestones
6. Recurrent respiratory tract infections including sinus infections, bronchitis, and pneumonia
7. Endocarditis
8. Pulmonary hypertension
9. Heart failure, where the heart is not able to effectively function and pump blood to all parts of the body.

Some or more of these symptoms should trigger a warning to get the child tested for congenital heart disease. While some would just require a monitoring until severe symptoms develop, severe conditions like holes, abnormal valves, narrowed arteries, and blood vessel abnormalities might require immediate intervention. If you wish to discuss about any specific problem, you can consult a cardiologist.

As the name suggests, congenital nephrotic syndrome affects the kidneys of newborn babies. Though congenital means the disease must be present from birth, babies who develop nephrotic syndrome in the first three months are also said to suffer from this condition. This is a rare genetic disorder that is passed down from parents to their children. Boys are at a higher risk of suffering from this disorder than girls. The congenital nephrotic syndrome causes the kidneys to leak large amounts of protein into the baby’s urine. This can lead to swelling of the body tissues and a weakened immune system.

Some of the common symptoms of this disease include

1. Low birth weight
2. Lack of appetite
3. Swelling of the body
4. Foamy or frothy urine
5. Lowered urine production
6. Cough

Pregnant women are usually screened for this condition before the baby is born. The doctor will be looking for a placenta that is larger than normal in ultrasound and high levels of alpha fetoprotein in amniotic fluid samples. If found; the doctor might ask for a genetic test to confirm the diagnosis.

Once the baby is born, he or she will show signs of fluid retention as the body begins to swell. Other signs your doctor will look out for are high blood pressure, signs of malnutrition and abnormal sounds from the heart and lungs. A urine analysis will also show high levels of protein in the urine through the overall protein levels in the body may be low. The doctor may also ask for a kidney biopsy in some cases to confirm the diagnosis.

Aggressive forms of treatment in the early stages of this disease can help control it. This may include antibiotics, blood pressure medication, ACE inhibitors and angiotensin receptor blockers to reduce protein leakage and diuretics to manage excess fluid build-up. Nonsteroidal anti-inflammatory drugs may also help reduce the amount of protein leaking into the urine. In addition, the doctor may advise you to limit fluid the baby’s fluid intake to control the swelling. As a last resort, the kidneys may need to be removed to prevent protein loss. This will be followed by dialysis or a kidney transplant.

If left unchecked, this disorder can lead to a number of complications including acute kidney failure, blood clots, infections and diseases related to malnutrition. It can also lead to the death of a baby in the first year of catching the infection or before his or her fifth birthday.

Adrenal insufficiency is a condition in which the adrenal glands of the patient do not produce sufficient amount of steroid hormones. It mostly affects the production of cortisol but in some cases, the production of aldosterone may also be reduced. At times, dysfunction of the hypothalamus or the pituitary gland can also cause adrenal insufficiency because the hormones produced by these two glands help in regulating the functions performed by hormones secreted by the adrenal gland. These steroid hormones play an important role in bodily functions such as metabolism, immunity development, salt/water balance, sexual development and others. So, when these hormones are not produced in adequate amount, the individual experiences specific problems and thus, treatment for adrenal insufficiency becomes necessary.

Causes: Adrenal insufficiency can be caused by many reasons. Sudden withdrawal of long-term corticosteroid therapy, adrenoleukodystrophy, stress in people who already suffer from chronic adrenal insufficiency, craniopharyngioma, and Waterhouse-Friderichsen syndrome are responsible for adrenal insufficiency. In some cases, Addison's disease and congenital adrenal hyperplasia also surface in the form of adrenal insufficiency.

Adrenal insufficiency can be categorized into three sections based on the ways through which they affect the adrenal gland and cause the low production of cortisol and other steroid hormones.

1. The first is adrenal dysgenesis in which the gland has not formed properly in the patient.
2. The second is impaired steroidogenesis in which the gland is not able to produce cortisol due to biochemical inefficiency
3. The third is adrenal destruction in which the gland gets damaged because of some disease.

Symptoms:

The symptoms of adrenal insufficiency manifest in the form of dehydration, weight loss, weakness, low blood pressure, muscle pain, hypoglycemia (low blood sugar) vomiting, diarrhea, craving for salt or salty food, change in mood, kidney failure, and shock. These symptoms are a result of hormonal deficiency caused by adrenal insufficiency and if not taken seriously, they can affect the patient seriously.

Diagnosis and Treatment: Adrenal insufficiency can be diagnosed with the help of adrenocorticotropic hormone (ACTH) stimulation test, which examines the functioning of the adrenal gland. A CT scan of the adrenal gland can also detect structural abnormalities in it. An MRI scan of the pituitary gland is also recommended in some cases as this gland also plays a secondary role in adrenal insufficiency. Adrenal insufficiency can be treated by giving the patient hormonal therapy. The hormones are given in the form of medications. Since cortisol inadequacy is the primary effect of adrenal insufficiency, it is supplemented with the help of medicines such as hydrocortisone (Cortef), prednisone (Deltasone), prednisolone (Delta-Cortef), methylprednisolone (Medrol) and dexamethasone (Decadron).

In cases of severe adrenal insufficiency, the patient is given intravenous fluids and intravenous steroids, which can give relief from the discomforting symptoms. Where the patient is found to be suffering from mineralocorticoid deficiency (low aldosterone), fludrocortisone acetate is given to balance the sodium and potassium imbalance. It should be remembered that the adrenal gland performs vital functions in the body and if it is deficient, then the body is bound to suffer. So, the patient should go for immediate diagnosis and follow the treatment therapy prescribed by the doctor. In case you have a concern or query you can always consult an expert & get answers to your questions!