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Pseudohypoparathyroidism

Pseudohypoparathyroidism General Information

Pseudohypoparathyroidism or PHP can also be called Albright’s hereditary osteodystrophy. This type of medical condition is actually a genetic disorder that presents similarities with another disease caused by lowered levels of parathyroid hormone, called hypoparathyroidism. An inherited disorder of this kind determines the patient’s organism not to respond to parathyroid hormone, although this hormone is found in normal concentrations. This medical condition is delicate and we will try in this chapter to offer you some of the main important information about it so that you become familiarize with the disease you suffer from. These pieces of information may not be complete and this is why we advise you to talk to a specialist in the domain. Pseudohypoparathyroidism appears because of the lack of response to parathyroid hormone. Scientists discovered there are three different types of this genetic disorder, type 1A, type 1B and type 2 characterized by resistance of certain target organs, such as kidneys and bones to PTH (parathyroid hormone). Type 1A is actually an autosomoal dominant disorder and it is biochemically similar to type 1B that has not got the physical appearance of the first type. Type 2, although it is biochemically similar to type 1, is it distinguished by the different urinary elimination of cyclic AMP in response to parathyroid hormone. PHP has some specific characteristics that differentiate it from other similar medical conditions, for example impaired bone growth, hyperphosphatemia, hypocalcaemia or high levels of PTH in plasma. The pathogenesis of Pseudohypoparathyroidism has been connected to dysfunctions of G proteins.

Pseudohypoparathyroidism Symptoms

In this section of our presentation we intend to present you some of the most common signs and symptoms of this disorder that are experienced by the majority of patients. It is very important for your future health to know as much as possible about the disease you are suffering from. We must precise that our list may not be complete because each person’s reactions vary a lot depending on the strength of their organism; they vary in intensity and range from mild, to moderate and even severe ones that could affect the patient’s quality of life. There were reported cases of particular and unique signs and symptoms. Some of the signs may be noticeable only by a trained doctor. All the manifestation of Pseudohypoparathyroidism are consequences of low levels of calcium (hypocalcaemia) and can include: seizures, weakness, tiredness, numbness, sensitivity to light, headache, impaired bone growth, mental retardation or round face. Pseudohypoparathyroidism can also be characterized by hyperphosphatemia, unusual sensations, blurred vision, pain felt in the abdominal area, lack of energy for physical actions, stiff or cramped limbs, short or thick stature, heart palpitations and short fourth fingers. As you can observe, the symptoms triggered by this medical condition are quite common and they can describe other similar disorders. Only a specialist can make the difference and give the exact diagnosis. It is important to visit a doctor as soon as you start experiencing some of these symptoms because if Pseudohypoparathyroidism is left untreated, new complications appear in a matter of hours or days.

Pseudohypoparathyroidism Treatment

As in the case of any other challenging medical condition, when a patient deals with Pseudohypoparathyroidism, early diagnosis and early adequate treatment have major importance in curing him/her. We strongly advise you to visit a health care provider as soon as you start experiencing any of the signs and symptoms that we have listed above. Because all the symptoms triggered by this disease are quite common, it is better to ask a doctor before taking any medication because only a trained specialist can differentiate a condition from another and choose the correct therapy. With the proper treatment applied in time, the outlook of Pseudohypoparathyroidism is very good and the chances for a perfect recovery are increased. When seeing your health care provider you will be asked about the manifestations of the disorder and about your family and personal medical history. After receiving the necessary information, some couple of tests may be still needed.

Physical exams are very important because a person who suffers from Pseudohypoparathyroidism has short stature, short neck, dental abnormalities, calcification under the skin, round face etc. Blood tests and urine analysis are done to measure the levels of calcium and phosphate in the plasma. If the results reveal low serum calcium, elevated intact PTH, high levels of serum phosphate, unusual response of AMP to the PTH challenge and abnormal gene testing, then the patient is diagnosed with Pseudohypoparathyroidism. As soon as the diagnosis is set, the doctor will proceed with applying the adequate treatment option. The aim of any treatment is to maintain high levels calcium without the help of parathyroid hormone. To do this, the health care provider will prescribe vitamin D and calcium supplements. Also, if the levels of phosphate are too high, phosphate binders (for example Calcium Carbonate, Sevelamer HCl and Calcium Acetate) and a diet poor in phosphorus is needed.

Other treatment options are based on several medications, such as Calciquid, Neo-Calglucon, Ridactate and Posture. Calcium Glubionate or Calciquid is a natural mineral found in foods necessary for the formation and maintenance of bones. It is usually used to prevent and to treat the calcium deficiencies and binds to minerals, as phosphate, to aid in their excretion out from the body. It is very important to take these medicines as your doctor recommended you to. If you have missed a dose, take it as soon as possible (when you remember), but if it is the time for the next dose, skip the missing one and follow the regular schedule. Avoid taking double doses or overdosing. If you take more medicines than the doctor said, seek immediate medical attendance because side effects, for example nausea and vomiting, confusion, delirium and even coma may occur rapidly because of the endocrine abnormality. Also, if you know you are allergic to any of the ingredients of the medicines listed above, inform your doctor as soon as you can. With the proper treatment received in time, Pseudohypoparathyroidism can be cured in a matter of months, or even weeks.




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