What Is Pseudopseudohypoparathyroidism?

Pseudohypoparathyroidism is a rare target tissue against PTH, with hypoparathyroidism, hypocalcemia, biochemical changes in hyperphosphatemia, and clinical changes. Although some patients are clinically difficult to distinguish from primary parathyroidism, an increase in iPTH can confirm the diagnosis. In addition, most patients have abnormal physical manifestations, also known as Albright's hereditary osteodystrophy (AHO). Intellectual decline is also common, such as thyroid, adrenal glands, hypogonadism, diabetes, diabetes insipidus. It is also commonly called pseudoparathyroidism type I and type II. Type I is the cell membrane defect of the target organ, which cannot form adenylate cyclase to PTH. The type II target function produces adenylate cyclase, but due to intracellular defects in subsequent procedures, the final target organ cannot respond to cAMp, so that the generated cAMP cannot further physiologically occur, and urine phosphorus output does not increase. Both type I and type II pseudoparathyroidism can be associated with or without AHO. Because the response of the target organ can be partially lost, it can be further divided into subtypes of bone reaction and kidney non-response and bone non-response and kidney response. They are described separately below.

Pseudoparathyroidism

What is pseudohypoparathyroidism? Defects in any part from the glands to the target tissue cells can cause hypoparathyroidism. According to pathophysiology, it can be divided into reduced serum immune activity PTH (iPTH), normal and increased hypoparathyroidism. ; Can also be divided into secondary, idiopathic and pseudoparathyroidism. ..More

Introduction to Pseudohypoparathyroidism

Pseudoparathyroidism type I

Pseudohypoparathyroidism type I can usually be divided into two types, Ia and Ib.

Ia Pseudohypoparathyroidism Hypofunction Ia

Causes and pathogenesis of pseudohypoparathyroidism

It is mainly a mutation of the Gsa gene, which leads to a decrease in the function of the Gsa protein. Due to the different expression of the Gsa protein gene, it can cause the cTH activation of PTH to be blocked and AHO and various endocrine defects. The human Gsa protein gene is a complex 20Kb gene, located at 20q13.2. Gene mutations can cause abnormal Gsa mRNA and cause disease. The inheritance of this disease is autosomal dominant or recessive.

Essentials for the diagnosis of pseudoparathyroidism

This type is the most common type of pseudohypoparathyroidism. The clinical manifestations are as follows.

Clinical manifestations Hypocalcemia symptoms: such as hand and foot convulsions, epileptic seizures, cataracts, lack of tooth enamel, late sprouting teeth, and basal ganglia calcification. Hand and foot twitching was milder.

2. Special physical signs: short (height <155cm), obese, round face, short neck, shield-shaped chest, short finger short toe deformity. More common in the fourth or fifth metacarpal or sacrum. During the examination, a fist will be held in hand. Because the fourth and fifth metacarpals are short, it can be seen that the distal ends of the two metacarpals do not show joint nodules and are sunken.

3 Mental retardation: It can be progressive, normal at birth, and gradually present with age.

4 A small number of clinical manifestations can be combined with multiple endocrine defects.

Laboratory diagnosis Decreased serum calcium: increased blood phosphorus, decreased urine calcium and phosphorus.

2. Increased blood iPTH

3 Decreased urine cAMP

Essentials for the treatment of pseudoparathyroidism

1. Calcium supplements: The selection and dosage of calcium are basically the same as those of primary parathyroidism.

2. If calcium alone cannot control tetany and epilepsy, you can add active vitamin D.

Ib Pseudoparathyroidism Pseudoparathyroidism Type Ib

Causes and pathogenesis of pseudohypoparathyroidism

The pathogenesis is unknown. Most believe that the G unit is normal, while others believe that the G unit is difficult to detect.

Essentials for the diagnosis of pseudoparathyroidism

Clinical manifestation

No special physical signs of AHO and no other endocrine function defects.

Laboratory inspection

Same as type Ia. There is no clinical manifestation of AHO in the identification with type Ia, so it is easy to be confused with primary parathyroidism, and it can be identified by measuring PTH.

Essentials for the treatment of pseudoparathyroidism

Lifetime calcium and active vitamin D treatment.

II Pseudohypoparathyroidism Type II

Causes and pathogenesis of pseudohypoparathyroidism

Target cell membrane receptors can accept PTH and synthetic cAMP due to post-receptor defects. The target cells do not respond to cAMP, so cAMP cannot undergo further physiological effects, and urine phosphorus output does not increase. Possibly due to the lack of intracellular calcium ion concentration or the defect of protein kinase, blood phosphorus is increased, 1,25 (OH) 2D3 is inhibited, and intestinal calcium absorption is decreased. On the other hand, PTH inhibits bone resorption, PTH inhibits renal tubular calcium reabsorption, and urine calcium increases. The above three factors reduce blood calcium.

Essentials for the diagnosis of pseudoparathyroidism

Clinical manifestation

Most patients have no signs of AHO and the symptoms of hypoparathyroidism are similar to those of the primary.

Laboratory inspection

(1) Hypocalcemia, hyperphosphatemia, urinary calcium, and urinary phosphorus all decrease.

(2) iPTH rises

(3) Increased urine cAMP

Treatment of Pseudohypoparathyroidism

Lifetime calcium and vitamin D treatment.

Subtypes of Pseudohypoparathyroidism

Pseudohypoparathyroidism type I, II, the PTH target organ antagonism is complete, that is, no response to bone and kidney. Its subtype is incomplete antagonism, showing two subtypes of bone response, renal non-response and renal response, bone non-response.

1. Bone reaction and renal non-responsePseudoparathyroidism, hyperparathyroidism are mostly not accompanied by signs of AHO, due to bone response, there is a bone resorption reaction, bone decalcification and fibrocystic osteitis are similar to parathyroid Bone disease, so there are bone disease, easy to fracture characteristics. The symptoms of hypocalcemia due to bone resorption are not obvious, and hand and foot twitching and epilepsy are rare; due to renal non-response, urine phosphorus is still reduced and blood phosphorus is increased. Laboratory tests: blood calcium is close to normal, blood phosphorus is increased, urine calcium and urine phosphorus are decreased, attenuated phosphatase is increased, and blood iPTH is increased. Urinary cAMP decreases in subtypes of type I, and increases in urinary CAMP in type II. Calcium and vitamin D treatment can cure bone disease, but it must still be treated for life.

2. Renal reaction bone non-reaction type: Rarely, most of them are pseudoparathyroidism type II. Due to renal response, the excretion of phosphate from the urine increases, and blood phosphorus can be lower than normal. Serum calcium and urinary calcium were reduced, and hand-foot twitch drowning occurred. Increased iPTH, normal serum phospholipase, increased urine CAMP, lifelong calcium and vitamin therapy, must be supplemented with phosphate therapy.

Pseudohypoparathyroidism

Causes and pathogenesis of pseudohypoparathyroidism

Pseudo-hypoparathyroidism is a genetic disorder with a family history. Most believe that it is associated with dominant inheritance, and some believe that it is autosomal dominant or recessive. Pseudoparathyroidism can also occur in a family, so it is believed that there is a common pathogenesis between them, only the expression is different.

Essentials for the diagnosis of pseudoparathyroidism

1. No AHO size and X-ray were seen.

2. There are pseudoparathyroidism or pseudoparathyroidism in first-degree relatives.

3 Blood calcium, phosphorus, urine calcium, phosphorus, iPTH, and cAMP were all normal.

Treatment of Pseudohypoparathyroidism

Because there is no metabolic abnormality, generally no treatment is required.

Prevention and treatment of pseudohypoparathyroidism

How should pseudohypoparathyroidism be prevented?

A prevention Emphasis on the technical level and sense of responsibility of the doctor for thyroidectomy by accidental parathyroidectomy or injury, such as the removal of large or all glands and permanent hypoparathyroidism

Nursing 1. Nursing of severe hypocalcemia

Emphasize that patients with multi-person collaboration should immediately lie flat with their heads tilted to one side and use an opener or tongue forceps quickly to prevent tongue bites and falling tongues and promptly inhale sputum and oxygen to keep the airway open. Establish venous channels. ECG monitoring Min in 1 visit and asked family members to accompany the patient to closely monitor the patient's heart rate, blood pressure, consciousness and mental state changes in a timely and accurate manner. Record the 24 hour input and output in a timely and correct manner. Collect the blood specimens for examination. Root sickness needs to be adjusted. The operation should be light to avoid various adverse stimuli that cause the patient to be emotionally excited. Keep warm and mildly hypocalcemia: follow the doctor's advice and push 10% calcium gluconate 10 ml. Note that the bolus speed is slow to prevent the occurrence of cardiac inhibitory drugs. Quickly enter the center to relieve the limbs. Convulsions can be repeated once every 4 to 6 h. Patients with moderate to severe hypocalcemia can be given 10% calcium gluconate 20 ml intravenously. Diazepam 5 to 10 mg can be injected intramuscularly or intravenously at the same time. The vast majority of patients with hand and foot convulsions after the above treatment Can be effectively controlled. For those who are difficult to control or frequent seizures in a short period of time, 10% to 20 ml of calcium gluconate can be given slowly. Note: It is effective to control acute symptoms and prevent recurrence. It is safe and does not significantly inhibit the heart. In addition, patients with reduced magnesium can be given 25% magnesium sulfate. Intravenous infusion of 10 to 20 ml can increase the sensitivity of PTH to target organs and improve hypocalcemia. symptom

2. Non-Acute Attack Care

Inform patients and their families that the disease is a genetic defect and that there is no specific treatment. Early treatment should be found early to prevent irreversible pathological damage and disease progression. Lifetime calcium and vitamin D supplementation is an effective method to prevent acute attacks and prevent further development of the disease. Care must be taken during treatment. :

(1) Preventing vitamin D deficiency and hypocalcemia cannot prevent acute attacks or prevent the progress of the disease;

(2) Prevent hypercalcemia and urinary stones caused by vitamin poisoning;

(3) It is advisable to control the blood calcium at the normal limit to prevent vitamin D deficiency and hypocalcemia;

(4) Re-examination of blood calcium and phosphorus within 3 months before the start of treatment / weekly thereafter and every 3 to 6 months thereafter and adjust the dosage at any time according to the level of calcium and phosphorus. Eat less high-phosphorus foods on the diet such as: milk meat Soy products eat more foods rich in high calcium and low phosphorus

3. Strengthen memory training

Prevent further decline of memory function. Nursing staff should consciously train the patient's memory. Daily memory training should be simple to complex and progressive, such as: Repeatedly training patients to memorize the location of people's objects around the ward environment, the location of living facilities, and recent events. Use poker cards to train patients in order from small to large or provide simple pictures to allow patients to classify color items to train patients to analyze, judge, reason and calculate. Let patients do simple operations within their ability, such as: dishwashing and sweeping through daily training Establish new conditioned reflexes in the patient's brain to gradually achieve self-care. Encourage patients to learn new things. Cultivate multiple hobbies. Activate brain cells to prevent brain function decline. In short, individualized nursing strategies should be formulated and implemented to help patients recover as quickly as possible.

4. Psychological nursing

At the time of the onset of the disease, the situation is dangerous and the patient is at risk of death. The patients and their families have obvious fear and anxiety. The medical staff should actively contact the patient to explain the characteristics of the disease to the patient so that the patient knows that the nurse will not discriminate and laugh at him and respect his privacy The right to prevent patients from being stimulated to prevent convulsions and aggravate the disease. Explain to patients and their families the relevant knowledge of the disease so that they understand that the disease is not terrible. By actively cooperating with treatment and nursing the disease, medication can be controlled and quality of life can be improved.

5. Discharge guidance and follow-up

Explain to patients and their families the relevant knowledge about pseudoparathyroidism can help them understand the importance of regular outpatient follow-up and adhere to regular hospital follow-up visits. Blood calcium should be taken regularly to prevent convulsions caused by hypocalcemia. Health Booklet Accepts Standardized Treatment and Care Encourages Patients to Build Confidence to Overcome Disease Takes Calcium for Life