Familial hypophosphatemia
| X-linked hypophosphatemia (XLH) | PHEX | LOF* |
| Autosomal dominant hypophosphatemic rick ... | FGF23 | GOF* |
| Autosomal recessive hypophosphatemic ric ... | DMP1 | LOF |
| Autosomal recessive hypophosphatemic ric ... | ENPP1 | LOF |
- Confusion.
- Appetite loss.
- Muscle weakness.
- Feeling tired and upset.
- Bone pain and fractures.
- Tooth decay or late baby teeth.
- Slow growth and short height in children.
What are the signs and symptoms of hyperphosphatemia?
These generally are uremic symptoms, such as the following:
- Fatigue
- Shortness of breath
- Anorexia
- Nausea
- Vomiting
- Sleep disturbances
What are the signs and symptoms of acute hyperphosphatemia?
Some of the tell-tale signs you might have hypophosphatemia, include:
- Muscle weakness
- Softening or weakening of bones
- Chronic depletion
- Depletion of muscles
- Issues with the blood
- Altered mental state
- Seizures
- Numbness
- Reflexive weakness
- Heart failure
Why does infection cause hypophosphatemia?
You’re more likely to get hypophosphatemia if you:
- have a parent or other close family member with the condition
- have the blood infection, sepsis
- have hyperparathyroidism
- are severely malnourished because of starvation or anorexia
- are an alcoholic
- take medications such as steroids, diuretics, or antacids in excess or for long periods of time
What are symptoms of hypokalemia?
Low potassium can be caused by:
- Frequent vomiting and/or diarrhea, including diarrhea from abusing laxatives
- Excessive sweating
- Drinking too much alcohol
- Drugs, including diuretics (which cause urination), antibiotics, and corticosteroids
- Not taking in enough potassium due to a poor diet (less common)
What is the most common cause of hypophosphatemia?
Hypophosphatemia is most often caused by long-term, relatively low phosphate intake in the setting of a sudden increase in intracellular phosphate requirements such as occurs with refeeding. Intestinal malabsorption can contribute to inadequate phosphate intake, especially if coupled with a poor diet.
What are the complications of hypophosphatemia?
Complications of hypophosphatemia include: death of muscle tissue (rhabdomyolysis) breathing failure. red blood cell destruction (hemolytic anemia)
Which condition can cause hypophosphatemia?
Hypophosphatemia is a serum phosphate concentration < 2.5 mg/dL (0.81 mmol/L). Causes include alcohol use disorder, burns, starvation, and diuretic use. Clinical features include muscle weakness, respiratory failure, and heart failure; seizures and coma can occur.
What are the signs and symptoms of hyperphosphatemia?
Signs and symptoms of acute hyperphosphatemia result from the effects of hypocalcemia, with patients occasionally reporting symptoms such as muscle cramps, tetany, and perioral numbness or tingling. Other symptoms include bone and joint pain, pruritus, and rash.
What happens when you have low phosphate levels?
Symptoms of hypophosphatemia occur only when the phosphate level in blood becomes very low. Muscle weakness develops, followed by stupor, coma, and death. In mild chronic hypophosphatemia, the bones can weaken, resulting in bone pain and fractures. People may become weak and lose their appetite.
What is the treatment of hypophosphatemia?
In chronic hypophosphatemia, standard treatment includes oral phosphate supplementation and active vitamin D. Future treatment for specific disorders associated with chronic hypophosphatemia may include cinacalcet, calcitonin, or dypyrimadole.
What is a critically low phosphate level?
You may not know that your blood phosphate levels are lower than normal, if they are not life-threateningly low. If your phosphorous levels are below 1.0 mg/dL, your tissues may have more trouble connecting hemoglobin with oxygen - which is critical for breathing.
What level is hypophosphatemia?
Hypophosphatemia is defined as an adult serum phosphate level of fewer than 2.5 milligrams per deciliter (mg/dL). The normal level of serum phosphate in children is considerably higher and 7 mg/dL for infants. Hypophosphatemia is a relatively common laboratory abnormality and is often an incidental finding.
What is considered severe hypophosphatemia?
Hypophosphatemia is defined as mild (2-2.5 mg/dL, or 0.65-0.81 mmol/L), moderate (1-2 mg/dL, or 0.32-0.65 mmol/L), or severe (< 1 mg/dL, or 0.32 mmol/L). Mild to moderately severe hypophosphatemia is usually asymptomatic. Major clinical sequelae usually occur only in severe hypophosphatemia.
What is the most common cause of hyperphosphatemia?
Renal failure is the most common cause of hyperphosphatemia. A glomerular filtration rate of less than 30 mL/min significantly reduces the filtration of inorganic phosphate, increasing its serum level. Other less common causes include a high intake of phosphorus or increased renal reabsorption.
What are the complications of hyperphosphatemia?
The short-term complications of hyperphosphatemia include acute hypocalcemia with possible tetany and, more rarely, acute deposition of calcium/phosphate complexes into joints, as well as subcutaneous tissue and other areas of soft tissue.
What happens in hyperphosphatemia?
When you have hyperphosphatemia, the phosphate levels in your body become very high. Your kidneys are supposed to excrete 90% of your daily phosphate load. Your gastrointestinal tract excretes the remaining phosphate. When you have kidney problems, your phosphate levels can't be regulated.
What causes hypophosphatemia?
Acute hypophosphatemia is usually the more severe and common type of hypophosphatemia seen in clinical settings. Its causes include: 1 Recovery from diabetic ketoacidosis. Diabetic ketoacidosis happens when someone mismanages their diabetes or might not realize they have it. It is a state that the body goes into when it is unable to produce enough insulin. Insulin is what helps your body break fat down and burn it as fuel. When you go into diabetic ketoacidosis, you have a buildup of acids in your bloodstream, leading to loss of consciousness or even death. 2 Chronic Alcoholism. It is believed that over time, alcoholism hampers your kidney’s ability to absorb phosphorus fully. This is one of the most common causes of hypophosphatemia. Fifty percent of people who are hospitalized due to alcoholism develop hypophosphatemia within the first three days of their hospitalization. 3 Burns. Phosphate is a source of intracellular energy, and when someone experiences a severe burn, their phosphate levels dip dangerously low. Therefore, patients must receive supplemental phosphate to stay healthy. 4 Respiratory alkalosis. This is a decreased amount of carbon dioxide pressure without increased bicarbonate. It usually happens when you hyperventilate or simply breathe in and out too quickly. Respiratory alkalosis causes acute hypophosphatemia because your cells naturally begin to shift around the phosphate stores in your bones. This cause of acute hypophosphatemia is different than the other causes because it will immediately return to normal once the hyperventilation stops.#N#
Why does respiratory alkalosis cause hypophosphatemia?
Respiratory alkalosis causes acute hypophosphatemia because your cells naturally begin to shift around the phosphate stores in your bones. This cause of acute hypophosphatemia is different than the other causes because it will immediately return to normal once the hyperventilation stops. . Chronic Hypophosphatemia.
What causes phosphorus to deplete?
Long-term starvation, malnutrition, and anorexia can deplete the body’s stores of phosphorous over time. Acute hypophosphatemia is especially common in hospital patients undergoing refeeding. Additional causes include chronic infections, Crohn’s disease, or malignant tumors. Hyperparathyroidism.
What is the normal phosphorus level?
Phosphorous is a mineral found in your bones that helps to keep your bones and body healthy. Normal blood phosphorous levels are between 2.5 to 4.5 mg/dL. Hypophosphatemia is a condition in which your blood has a low level of phosphorous. Low levels can cause a host of health challenges, including muscle weakness, respiratory or heart failure, ...
What happens when you go into ketoacidosis?
When you go into diabetic ketoacidosis, you have a buildup of acids in your bloodstream, leading to loss of consciousness or even death. Chronic Alcoholism. It is believed that over time, alcoholism hampers your kidney’s ability to absorb phosphorus fully. This is one of the most common causes of hypophosphatemia.
Why do people need phosphate?
Phosphate is a source of intracellular energy, and when someone experiences a severe burn, their phosphate levels dip dangerously low. Therefore, patients must receive supplemental phosphate to stay healthy. Respiratory alkalosis. This is a decreased amount of carbon dioxide pressure without increased bicarbonate.
Can antacids cause hypophosphatemia?
Long-term use of diuretics and antacids can significantly impact the kidney’s ability to absorb phosphorous. Symptoms. As stated previously, hypophosphatemia is always caused by an underlying condition. However, often it is asymptomatic.
What is hypophosphatemia?
Hypophosphatemia is a low level of phosphorus in the blood. Hypophosphatemia or phosphorus deficiencies may be seen with malnutrition, malabsorption, acid-base imbalances, increased blood calcium, and with disorders that affect kidney function. Someone with a mild to moderate hypophosphatemia often does not have any symptoms.
How does hypophosphatemia affect the nervous system?
The effects of hypophosphatemia are broad and impact nearly every system. Symptoms of this deficiency become apparent below 0.32 mmol/L. Effects primarily are due to intracellular depletion; however, chronic effects can be seen in the bone structures. Prolonged hypophosphatemia leads to osteopenia, osteoporosis, rickets, or osteomalacia due to decreased bone mineralization. The central nervous system may manifest with metabolic encephalopathy as a result of ATP depletion and may include altered mental state, irritability, paresthesias, numbness, seizures, or coma. Cardiac function is impacted by ATP depletion. In addition to possible systolic heart failure, the myocytes become less stable, and arrhythmias are possible. The decreased diaphragmatic function impacts pulmonary function with subsequent hypoventilation. Ventilator dependent patients have been shown to have longer hospital courses and worse outcomes when hypophosphatemia is present. Gastrointestinal dysfunction occurs as a result of ATP deficiency also with dysphagia or ileus possible. Generalized muscular weakness can occur. Rhabdomyolysis may occur resulting in renal injury and increased creatinine phosphokinases; however, this is typically only seen in acute or chronic hypophosphatemia such as in acutely ill persons with alcoholism. The hematology systems are rarely impacted, but depletion of ATP may result in increased erythrocyte rigidity, predisposing to hemolysis, reduced phagocytosis and granulocyte chemotaxis by white blood cells, and thrombocytopenia 44).
What is hypophosphatemia secondary to inadequate intake of phosphate?
Hypophosphatemia secondary to inadequate intake of phosphate occurs in the setting of prolonged poor dietary sources of phosphate, intestinal malabsorption, and intestinal binding by exogenous agents. As stated above, almost all diet types contain a surplus of phosphate sufficient to maintain needs.
What medications cause hypophosphatemia?
Certain medicines, including insulin, acetazolamide, foscarnet, imatinib, pentamidine, and sorafenib. Hypophosphatemia secondary to inadequate intake of phosphate occurs in the setting of prolonged poor dietary sources of phosphate, intestinal malabsorption, and intestinal binding by exogenous agents.
How is phosphate upregulated?
In general, phosphate is upregulated through absorption in the intestines and decreased through renal excretion. Excesses are stored in the bones which act as a buffer to maintain a relatively stable total body content. Normal serum levels of phosphate should be 4 to 7 mg/dL in children and 3 to 4.5 mg/dL in adults 2).
What foods contain phosphates?
A wide variety of foods, such as beans, peas and nuts, cereals, dairy products, eggs, beef, chicken, and fish, contain significant amounts of phosphorus.
Why is phosphorus important?
Phosphates plays an important role in growth, development, bone formation, maintain the body’s acid-base balance, and cellular metabolism. Phosphates are vital for energy production, muscle and nerve function, and bone growth. You get the phosphorus you need through the foods you eat.
What is the difference between hypophosphatemia and chronic hypophosphatemia?
Hypophosphatemia is a low level of phosphate in your blood. Phosphate is an electrolyte (mineral) that works with calcium to help build bones. It also helps produce energy. Hypophosphatemia can be acute or chronic. Acute means the level in your blood drops suddenly. Chronic means the level has been low or drops slowly, over time.
What is the best way to check phosphate levels?
A blood sample is used to check the level of phosphate. Your calcium, vitamin D, or magnesium levels may also be checked. A urine sample is sometimes also checked. Your body gets rid of extra phosphate through your urine. High levels in your urine may mean your body is getting rid of too much phosphate.
What to tell your healthcare provider about your symptoms?
Your healthcare provider will examine you and ask about your symptoms. Tell him or her about any medicines you are taking, and the amounts. Your provider may ask if you have problems with alcoholism or an eating disorder. Also tell your provider if you had any recent surgery or injury, or you have a lung disease.
What medications lower phosphate levels?
Steroid medicine, or use of too many diuretics (water pills) or antacids. Certain cancer medicines can lower your phosphate level. Diabetic ketoacidosis (DKA), hypothyroidism, obesity, or certain lung problems, such as asthma. Severe or chronic diarrhea, or inflammatory bowel disease.
What foods contain phosphate?
Examples include breads that contain yeast, dairy products, meat, eggs, peas, nuts, and beans.
What happens if you get DKA in the hospital?
If you were brought into the hospital because DKA caused hypophosphatemia, the DKA will be treated. If it was caused by malnutrition or lack of vitamin, you will be given the nutrients or vitamin you need.
What causes hypophosphatemia?
Chronic hypophosphatemia usually is the result of decreased renal phosphate reabsorption. Causes include the following: Increased parathyroid hormone levels, as in primary and secondary hyperparathyroidism. Other hormonal disturbances, such as Cushing syndrome and hypothyroidism. Vitamin D deficiency.
Why is sodium phosphate not tolerated?
Oral sodium phosphate or potassium phosphate may be poorly tolerated because of diarrhea. Ingestion of 1 L of low-fat or skim milk provides 1 g of phosphate and may be more acceptable. Removal of the cause of hypophosphatemia may include stopping phosphate-binding antacids or diuretics or correcting hypomagnesemia.
Is potassium phosphate safe to take IV?
It should be administered in any of the following circumstances: IV administration of potassium phosphate (as buffered mix of K2HPO4 and KH2PO4) is relatively safe when renal function is well preserved. Parenteral potassium phosphate contains 93 mg (3 mmol) phosphorus and 170 mg (4.4 mEq) potassium per mL.
Can hypophosphatemia cause muscle weakness?
Hypophosphatemia is usually asymptomatic, but severe depletion can cause anorexia, muscle weakness, and osteomalacia. Treat the underlying disorder, but some patients require oral, or rarely, IV phosphate replacement.
