Pediatric Multiple Endocrine Tumor Type II
Introduction
Introduction to multiple endocrine neoplasia type II in children Multiple endocrine neoplasia syndrome (MENS) is a group of dominant hereditary diseases with obvious family tendencies. Multiple endocrine glands have tumors and can produce a variety of hormones that are identical or complex with the gland. Or hormone-like substances, thus causing extremely complex and variable endocrine quorums. Currently, MENS is divided into 3 types: type I is mainly thyroid, pituitary, and glandular tumors, also known as Wermerssyndrome; type II is medullary thyroid carcinoma, chromaffin Cell tumors and hyperparathyroidism are characterized by coexistence, also known as Sipplessyndrome; type III is characterized by multiple neuroma with medullary thyroid carcinoma and/or adrenal pheochromocytoma, also known as Khairisyndrome. basic knowledge The proportion of illness: 0.021% Susceptible people: seen in children Mode of infection: non-infectious Complications: neuroma, peptic ulcer, hypercalcemia
Cause
Pediatric multiple endocrine neoplasia type II etiology
(1) Causes of the disease
The etiology of this disease is unknown, has a significant family tendency, and is autosomal dominant.
(two) pathogenesis
Mostly autosomal dominant inheritance, the pathogenesis is not yet clear, children are more, Sarrosi et al reported a case of familial bilateral parathyroid tumor, combined with bilateral pheochromocytoma and bilateral medullary thyroid carcinoma, and review In the literature, when pheochromocytoma with parathyroid adenocarcinoma, medullary thyroid carcinoma is definitely present (100%), and pheochromocytoma is often bilateral (84%), parathyroid adenoma may be multiple The surgeon should be reminded.
Prevention
Pediatric multiple endocrine neoplasia type II prevention
The etiology of this disease is unknown, there is a dominant family-oriented dominant hereditary disease, so we can refer to the prevention of genetic diseases, preventive measures from pre-pregnancy to prenatal:
Pre-marital medical examination plays an active role in preventing birth defects. The size of the effect depends on the examination items and contents, including serological examination (such as hepatitis B virus, treponema pallidum, HIV) and reproductive system examination (such as screening for cervical inflammation). General medical examinations (such as blood pressure, electrocardiogram) and asking about the family history of the disease, personal medical history, etc., do a good job in genetic disease counseling.
Pregnant women should avoid harmful factors as far as possible, including away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, toxic and harmful heavy metals, etc. In the process of antenatal care during pregnancy, systematic screening of birth defects is required, including Regular ultrasound examination, serological screening, etc., if necessary, a chromosome examination.
Once an abnormal result occurs, it is necessary to determine whether to terminate the pregnancy; the safety of the fetus in the uterus; whether there is sequelae after birth, whether it can be treated, how to prognose, etc., and take practical measures for diagnosis and treatment.
Complication
Pediatric multiple endocrine neoplasia type II complications Complications neuroma peptic ulcer hypercalcemia
Patients can be associated with multiple neuroma, mucinous neuroma, megacolon, etc., can occur peptic ulcer, paroxysmal hypertension, hypercalcemia.
Symptom
Pediatric multiple endocrine neoplasia type II symptoms common symptoms goiter hypertensive hypercalcemia diarrhea parathyroid hyperthyroidism cerebellum-retinal syndrome
Symptoms of medullary thyroid carcinoma, pheochromocytoma, hyperparathyroidism, clinical syndrome syndrome, hyperparathyroidism syndrome IIA Only parathyroid function and cell-free hyperplasia can be used as multiple endocrine neoplasia syndrome IIB. In addition, patients may be associated with multiple neuroma, mucinous neuroma, megacolon, etc., Miller et al. In cases of pheochromocytoma, 2 cases of serum calcium and immunoreactive parathyroid hormone (IPTH) continued to increase after surgery, and all of them fell to normal after resection of bilateral medullary thyroid carcinoma and hyperplasia of the parathyroid gland. Samaan et al reported 3 cases of carcinoid hyperparathyroidism (2 cases of adenoma, 1 case of hyperplasia), and recommended that all carcinoid patients should be investigated for the presence of hyperparathyroidism in detail, clinically often with a gland The lesion is the main manifestation and masks the performance of other endocrine gland tumors, so when an endocrine adenoma is found, the possibility of this syndrome must also be considered.
1. Thyroid medullary carcinoma: 80% to 92%, is a tumor originating from thyroid C cells. In addition to the goiter that meets the characteristics of cancer, it will secrete calcitonin and various heterologous hormones (ACTH). , VIP, 5-HT, etc.) caused a variety of clinical syndromes: peptic ulcer, diarrhea, skin flushing, high blood pressure, but serum calcium is not low or even high; determination of elevated blood calcitonin.
2. Pheochromocytoma: 70% to 80%, mostly bilateral adrenal medulla, different from sporadic pheochromocytoma, mainly secreted adrenaline, 70% familial, 10% clinically asymptomatic 90% showed clinical features of pheochromocytoma, a few with neurofibromatosis and cerebellar-retinal syndrome.
3. Hyperparathyroidism (proliferation or adenoma): accounted for 50%, manifested as hypercalcemia.
The main symptom of this syndrome is medullary thyroid carcinoma and pheochromocytoma. Any symptoms that first appear in the clinic should be checked according to the possible presence of MEN.
Examine
Examination of multiple endocrine neoplasia type II in children
1. Blood test: Determination of blood hormone levels such as calcitonin, parathyroid hormone, growth hormone, blood glucose 5-hydroxyamine, etc., for early diagnosis of this disease.
Urine VMA, blood glucose, blood norepinephrine, adrenaline and calcitonin can be significantly elevated, blood electrolytes, T3, T4, aldosterone, cortisol and glucagon should be routinely examined.
2. Provocation test: Simple pheochromocytoma is positive for stimulation with glucagon or tyramine. If pheochromocytoma is combined with other endocrine gland tumors, especially medullary thyroid carcinoma, the tyramine test is negative. , glucagon is positive.
3. Imaging examinations such as X-ray, B-ultrasound, CT scan, etc. found that parathyroid tumors, pheochromocytoma and medullary thyroid carcinoma, adrenal adenoma, etc., or found adrenal metastases, neck, retroperitoneal lymph nodes, etc. Peptic ulcer, megacolon and other diseases can still be detected.
Diagnosis
Diagnosis and diagnosis of multiple endocrine neoplasia in children
diagnosis
Diagnosis is based on clinical manifestations.
Differential diagnosis
The disease must be differentiated from MESSI, type III, type I is thyroid, pituitary, glandular tumors; type III is multiple neuroma with medullary thyroid carcinoma and/or adrenal chromaffin cells; and this disease MENS Type II is characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism.
