Multi -disciplinary collaboration to cure rare diseases together

Rare strange disease repeated torture

Mr. Wang, 35, was a flower farmer. He found a little abnormal liver function 2 years ago, and was accompanied by weak lower limbs. Mainly because it is a flower farmer, you need to walk frequently, and often appear weak. At first he did not care about it. It was laborious to develop to the upstairs later. Sometimes it was limited to opening his mouth. It was the physical weakness caused by his own hepatitis. None of the hospitals and departments were not thoroughly treated. After being introduced by people, the blood and dampness department of the Second Hospital was introduced.

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Multi -disciplinary collaboration, common diagnosis of strange diseases

After admission examination, the patient's various examination results were roughly normal, but the muscle enzyme spectral increased, and the electrocardiography indicated muscle -based damage. For this strange case, the second hospital's blood rheumatism, orthopedic department and other multidisciplinary intervention consultations, passed through Further inspection, Dr. Li Man in the Department of Rheumatology believes that patients are more likely to be myositis, so I asked the deputy chief physician of the orthopedic to help the muscle biopsy ...

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Successful diagnosis, symptomatic treatment

Combined with the patient's onset, volatility neck and lower limb back muscle group weakness, increased muscle enzymes, and negative immune antibodies, the final muscle pathology returns lipid deposition muscle disease, continues to improve the second -generation sequencing of the gene, prompting the ETFDH gene mutation mutation The diagnosis patient is Type II C.

After diagnosis of patients, the use of riboflavin (vitamin B2) is used to check the normal muscle enzymes around the surrounding area.

Dr. Li Man, Heng Rheumatology

In the face of difficult diseases and rare diseases, accurate diagnosis is often the most difficult. Previously, the rheumatism and blood department of Longyan Second Hospital also successfully cured a patient with similar types of patients through scientific diagnosis and symptomatic treatment.

This rare but cure genetic muscle disease, once diagnosed, timely give nucleotolin (vitamin B2) and nutritional support in time, can quickly improve the symptoms and even cure and have low treatment costs and good effects. Cognition of genetic diseases.

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Science time

Type II C type, also known as a multi-alignonase ACyl-Coa Dehydrogenase Deficience (MADD), is an inginity recessive genetic disease. This is a relatively rare type Diseases, of which type I accompanied by polycystic kidney, inlaid in the middle of the face, and other congenital deformities, most of the treatment died in the newborn period; Type III is also known as late hairstyle, from the infantile period to adults, and the clinical manifestations are relatively mild. For muscle weakness, exercise intolerance, muscleache and diarrhea, mostly suffer from the trunk muscles and cervical extension muscles, chewing muscles and respiratory muscles can also be affected. Cardiopathy, liver damage, liver damage and fatty liver damage.

In the case of fever, hunger, fatigue, use of special drugs or pregnancy, etc., patients with late hairstyles will increase their muscle weakness and can cause acute metabolic disorders. Respiratory failure requires auxiliary ventilation, and severe cases can die suddenly. Most patients have a good response to large doses of vitamin B₂, which can reverse symptoms and even cure diseases.

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Multi -discipline collaboration for health protection

As one of the common complaints of the clinic of rheumatism, muscle fatigue soreness is also a key symptom that affects patients' labor ability and self -care ability. Its positioning diagnosis is more complicated. The suffering of the suffering of multiple parts such as brain, spinal cord, peripheral nerve, neuromuscular connector, and muscles may lead to obvious fatigue symptoms. Positioning diagnosis has played an extremely important role in determining the cause. Due to the complexity of the exercise system and the rareness of muscle diseases, even in the present, there are often insufficient identification and diagnosis and treatment of fatigue and discomfort caused by muscle diseases. And even if some patients can recognize muscle suffering, there are situations that cannot be diagnosed accurately. Between the identification and accurate diagnosis of muscle disease, muscle biopsy is an important bridge connecting the two. Through a good multidisciplinary synergy diagnosis and treatment, Longyan Second Hospital finally accurately determined the patient's cause, symptomatic treatment, and received good results. Essence

Li Man

Outstanding Young Physician Outstanding Party Affairs Worker, Outstanding Young Physician

In 2009, he worked as the Second Hospital of Longyan City. Since its clinical work, he is good at diagnosis and treatment of rheumatism and immune system diseases, especially the application of muscle ultrasound in rheumatoid diseases. The diagnosis and treatment of inflammatory muscle disease has rich experience. In 2016, he studied at the Rheumatology Department of Renji Hospital affiliated to Shanghai Jiaotong University. He studied with Professor Ye Shuang; graduate teacher Professor Xue Yuan from the Department of Rheumatology of Zhongshan Hospital in Xiamen; published several papers in provincial national journals and presided over 1 city -level project. Participate in 1 major topic of the Fujian Province Immunization Society.

Outpatient time: Monday morning, Thursday all day

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