OVERVIEW
Overview of Pseudohypoparathyroidism
Pseudohypoparathyroidism is an inherited disease with symptoms and characteristic signs of hypoparathyroidism. It is a rare familial disorder in which the patient’s parathyroid hormone (PTH) receptors are incompletely or not at all responsive to parathyroid hormone. The patient presents clinically with hypocalcemic tics, and laboratory tests show low blood calcium with high blood phosphorus and elevated blood parathyroid hormone.
Whether medical insurance
yes
Department
Pediatrics, Endocrinology
Clinical symptoms
Much like hypoparathyroidism, the typical patient also has unique skeletal defects and developmental defects. The main manifestations are short stature, body fatness, round face, short neck, and shield chest; short finger and toe deformities; radial curvature, and soft tissue calcification or ossification are more common.
Harms
Severe cases can cause renal hypoplasia.
Complications
Due to low blood calcium and high blood phosphorus, ectopic calcification is easy to occur in the body, the most common sites are basal ganglia calcification of the cranium and lens calcification (cataract), and individual patients develop renal calcification, which can cause renal hypoplasia in severe cases.
Examination
Physical examination, routine blood test, measurement of blood calcium, blood phosphorus, blood parathyroid hormone, urine calcium and urine phosphorus levels, X-ray film.
Diagnosis
Diagnosis can be made on the basis of typical symptoms such as short stature, chubby body, round face, short neck, shield-shaped chest, short fingers, etc., combined with blood parathyroid hormone level, blood biochemistry, blood routine and urine routine examination.
Treatment principle
Drug treatment for symptoms.
Curability
There is no cure for the time being, but symptomatic treatment can relieve the symptoms.
Dietary advice
Diet should be nutritious and balanced, high in calcium, low in phosphorus, low in sodium and low in fat.
Causes
Epidemiology
Familial hereditary disease, male to female incidence ratio is 1:2.
Etiology
Related to genetic abnormalities and heredity, it is an X-chromosome companion dominant hereditary, rare family hereditary disease. In recent years, it has been found that the gene defects can also be on the autosomes and are either dominant or recessive.
Transmission
None
Symptoms and Diagnosis
Typical symptoms
1. Physical abnormalities caused by genetic defects, such as short and thick stature, fat and round face, short neck and squint, bent radius, short fingers (toes) and metacarpal (toes) deformities (mostly in the 4th and 5th metacarpals or metatarsals). There may also be mental retardation, soft tissue calcification, poor sense of taste and smell, etc. 2. Complete or partial lack of response to parathyroid hormone in peripheral target organs (bones and kidneys) leads to compensatory hyperplasia and hypertrophy of parathyroid tissues. 3. Increased secretion of parathyroid hormone, and increased concentration of parathyroid hormone in the whole segment of the blood. 4.
Diagnostic basis
The patient has a family history of pseudohypoparathyroidism.2 The patient has short stature, short fingers, round face, strabismus, and mental retardation.3 Blood biochemistry tests show hypocalcemia and hyperphosphatemia, and blood alkaline phosphatase is normal or elevated.4 The patient’s blood parathyroid hormone is markedly elevated.5 Other endocrine diseases are excluded.
Treatment
Treatment guidelines
Symptomatic drug therapy.
Drug therapy
1. During the period of convulsive seizure, 10% calcium gluconate should be injected intravenously for 10 ml 1-3 times a day, supplemented with sedatives such as sodium phenobarbital or sodium phenytoin if necessary. Supplementation with calcium and active vitamin D (1,25(OH)2D3-Roquefort) should be given at the same time.2. Intermittent treatment is aimed at relieving the symptoms of hypocalcemia and preventing convulsions and ectopic calcification. Oral vitamin D2 (osteopontanol) or D3, to promote calcium absorption from the intestine, if the effect of vitamin D is not satisfactory, try dihydrotachysterol (AT-10) or active vitamin D-1a (OH) D3.(3) Calcium salts can be orally administered as calcium carbonate, 2 to 4 grams / day, often used in conjunction with vitamin D and other drugs. (5) Chlorthalidone 50 mg/day and low-salt diet to maintain normal blood calcium. (6) Magnesium, a small number of patients after the above treatment, although the blood calcium has been raised to normal, but still have tetany should be suspected and may be accompanied by hypomagnesia, magnesium should be used.
Prognosis
There is no cure. Pharmacological treatment during tic episodes can alleviate tic symptoms, and aggressive treatment during the intervals can alleviate symptoms of hypocalcemia and prevent tics and ectopic calcification.
Nursing care
Daily care
1. Make it a habit to have a bowel movement every day. 2. Take appropriate exercise. 3. Keep the indoor air good and the temperature and humidity suitable. 4. Respect the doctor’s instruction to take medication for a long time, and follow up the consultation on time.
Diet
Diet should be rich in nutrients, balanced, high in calcium, low in phosphorus, low in sodium and low in fat. Chew slowly and eat small meals.
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