Introduction
When the kidneys do not remove acid from the blood into the urine, renal tubular acidosis (RTA) is caused. When the level of acid in the blood becomes too high, a condition called acidosis occurs. Some amount of acid in the blood is normal, but too much acid can impair many bodily functions. Lightwood- Albright syndrome shows a clinical picture of the following conditions:
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Metabolic Acidosis - Buildup of acid in the body.
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Hyperchloremia - Chloride imbalance in the body.
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Hyperparathyroidism - Thyroid gland secreting excessive parathyroid hormone.
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Hypercalcemia - Excessive calcium levels in the blood.
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Elevated Urinary pH - Increased pH of the urine.
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Decreased Renal Excretion of Titratable Acid- Urinary acid levels.
What Is Lightwood-Albright Syndrome?
The lightwood-Albright syndrome is the neonatal form of renal tubular acidosis. It is characterized by excessive acid in distal tubules in the kidney that occurs as a result of wasting bicarbonate and the inability to excrete hydrogen ions. By definition, this is a transient process with no specific disease course.
It is a self-limiting condition that does not require any intervention after 18 months of age. It is characterized by hyperchloremic acidosis, nephrocalcinosis, anorexia, poor growth, dehydration, severe constipation, decreased blood pressure, weakness, and severe vomiting. In older children, it is advisable to check for rickets (bone condition affecting children), bone deformities, pathologic fractures (use caution when positioning for surgery), and growth retardation.
What Are the Risk Factors and Causes of Lightwood-Albright Syndrome?
The genetic risk factor is the primary factor that causes this disease in infants. A child with a single parent with this gene mutation may inherit this condition. Listed below are some causes of Lightwood-Albright syndrome:
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It can be genetically inherited.
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It can develop due to autoimmune diseases such as Sjögren's syndrome and lupus (autoimmune conditions).
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It can also develop due to certain drugs, such as anti-cancer drugs.
What Are the Symptoms of Lightwood-Albright Syndrome?
The main symptoms of Lightwood-Albright syndrome are low levels of potassium and bicarbonate (a waste product produced by the body) in the blood. When the kidneys send too much potassium into the urine instead of returning it to the blood, the potassium level drops.
As potassium helps regulate nerve and muscle health and heart rate, low potassium levels can lead to the following:
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Extreme weakness.
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Irregular heartbeat.
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Paralysis.
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Persistent fatigue.
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Lack of hunger.
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Drastic weight change.
When to Get Help for Lightwood-Albright Syndrome?
Seek emergency medical help in case the following symptoms of kidney disease are noticed in a child less than 18 months of age:
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Nausea.
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Vomiting.
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Loss of appetite.
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Fatigue and weakness.
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Sleeping disorder.
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Urinating more or less than normal.
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Diminished mental acuity.
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Muscle spasms.
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Swelling of the feet and ankles.
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Dry and itchy skin.
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Uncontrolled high blood pressure (hypertension).
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Shortness of breath (observed when fluid accumulates in the lungs).
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Chest pain (observed when fluid collects around the lining of the heart).
How Is Lightwood-Albright Syndrome Diagnosed?
The diagnosis of Lightwood-Albright syndrome may also require specific tests and procedures to determine the severity (stage) of kidney disease. The tests include:
Blood Tests - Kidney function tests check the levels of waste products such as urea and creatinine.
Urinalysis - Analysis of urine samples reveals abnormalities that indicate chronic kidney failure and helps identify the cause of chronic kidney disease.
Imaging Tests - The doctor may use ultrasound to assess the structure and size of the kidneys. In some cases, other image processing techniques can also be used.
Biopsy - The doctor may recommend a kidney biopsy, which takes a sample of kidney tissue. A kidney biopsy is often done under local anesthesia, and a long, thin needle is inserted through the skin into the kidney. A biopsy sample is sent to a laboratory for testing to determine the cause of kidney problems.
What Is the Treatment of Lightwood-Albright Syndrome?
The treatment of Lightwood-Albright syndrome includes the following:
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Alkaline Replacement - Treatment with alkaline replacement results in the improvement of hyperchloremia and hypercalcemia. The temporary need for alkaline replacement therapy distinguishes this condition from other forms of renal tubular acidosis that may require lifelong treatment.
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Dialysis - It is recommended in severe cases.
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Hemodialysis: In hemodialysis, blood is mechanically purified outside the body. Each of these treatments lasts several hours, and usually, a patient needs to do it three or more times a week. Hemodialysis is most often done in a hospital setup, but in some exceptional cases, it can be done at home.
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Peritoneal Dialysis: It uses the body's peritoneal membrane, which lies beneath the outer layer of the abdominal wall, to filter blood. There are two forms of peritoneal dialysis; continuous cycle peritoneal dialysis (CCPD) and continuous ambulatory peritoneal dialysis (CAPD). CCPD uses a simple machine called a cycler to perform dialysis at night. In contrast, CAPD functions throughout the day and does not require a machine. CCPD requires parental support and is best suited for younger children whereas CAPD is patient-performed and may be more suitable for older children and adolescents.
What Are the Complications of Lightwood-Albright Syndrome?
Listed below are some complications of Lightwood-Albright syndrome in children:
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Slow growth in children.
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Causes adults to develop progressive kidney and bone disease.
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Accumulation of deposits causes kidney stones.
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Fluid retention causes swollen arms or legs, high blood pressure, or lung fluid (pulmonary edema).
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A rapid increase in potassium levels in the blood (hyperkalemia) can affect the heart and be life-threatening.
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Anemia.
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Heart disease.
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Weakened bones and increased risk of fractures.
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Central nervous system damage can cause difficulty concentrating, personality changes, or seizures.
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Decreased immune response and increased susceptibility to infections.
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Pericarditis (inflammation of the sac-like membrane surrounding the heart, otherwise known as the pericardium).
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Irreversible damage to the kidneys (end-stage renal disease), eventually requiring dialysis or a kidney transplant.
How to Prevent Lightwood-Albright Syndrome?
The Lightwood-Albright syndrome cannot be prevented since it is genetically inherited or occurs by mutation of a gene. The management of the medical condition with a doctor’s help is the only way. If the signs or symptoms of this condition are noticed in a child, doctor should be immediately informed about the same.
Conclusion:
The Lightwood-Albright syndrome is a condition only found in children less than 18 months of age. It is a self-correcting condition and resolves on its own usually. Children should be monitored closely. With timely management of this condition, further permanent damage to the body may be prevented.
