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    Home > Active Ingredient News > Digestive System Information > Repeated intestinal obstruction, the cause is difficult to find, the director made the diagnosis

    Repeated intestinal obstruction, the cause is difficult to find, the director made the diagnosis

    • Last Update: 2021-04-14
    • Source: Internet
    • Author: User
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    It is only for medical professionals to read.
    A young woman came to the department.
    She had repeated intestinal obstruction, but she could not find the cause.
    Let’s take a look at what happened.
    The patient is a young woman in recent months.
    I was diagnosed with intestinal obstruction due to abdominal pain many times.
    I was hospitalized in a local hospital.
    I did a lot of CT, ultrasound, and laboratory tests.
    The cause was never found, and the treatment of intestinal obstruction was always ineffective.

    It seems that intestinal obstruction is not a common cause.
    I carefully looked at the abdominal CT and plain film she had done.
    It is indeed a typical manifestation of intestinal obstruction.

    The imaging examination in our hospital also showed intestinal obstruction, and the obstruction site was in the colon.

    Fig.
    1 The patient’s abdomen in vertical position Fig.
    2 The patient’s abdominal CT patient is normally healthy, has not undergone surgery, has no history of constipation, and imaging examination has not found any signs of tumors.

    The local hospital's examination has ruled out mechanical intestinal obstruction.
    The cause of intestinal obstruction may be pseudo-intestinal obstruction.

    Pseudo-intestinal obstruction is divided into primary and secondary types.
    Primary pseudo-intestinal obstruction is caused by abnormal intestinal smooth muscle or enteric nervous system.
    The causes of secondary pseudo-intestinal obstruction include connective tissue disease.
    (Such as systemic lupus erythematosus), endocrine diseases (such as hypothyroidism), tumors, infections, neurological diseases, etc.

    Cheek erythema, is it an intestinal obstruction caused by systemic lupus erythematosus? I asked the medical history carefully and found that the patient's abdominal pain always appeared in the menstrual cycle.
    The first episode was a dispute with family members.
    After being emotional, there were no obvious signs on physical examination, except that she had some erythema on her cheeks.

    Laboratory examination revealed obvious hyponatremia, the blood sodium value was only 123mmol/L, and other examinations showed no obvious abnormalities.

    Figure 3 The patient's blood routine results Figure 4 The patient's biochemical results The patient is a young woman, at the age when autoimmune diseases are prone to occur, and there is symmetrical erythema on the cheek during physical examination.

    Is she an intestinal obstruction caused by systemic lupus erythematosus? Then why are there no joint and kidney problems? Anyway, women of this age have to check autoimmune antibodies to rule out systemic lupus erythematosus.

    After hospitalization, the patient has been suffering from abdominal pain.
    After using various methods such as enema and spasmolysis, the patient still suffers from unbearable pain and cannot sleep.

    Serum autoantibody screening was negative and it does not appear to be systemic lupus erythematosus.

    I asked about the medical history again.
    The pain in the limbs and numbness in the lower extremities I went to the medical history again, so that the patient recalled carefully what she was uncomfortable with besides the abdominal pain.

    The patient said timidly, "Doctor, when I first had a stomachache these few times, I had arm pain, leg pain, and numbness in my toes.
    My hands sometimes tremble, and I can't even hold the phone.

    But .
    These discomforts will be fine if
    I stay in the hospital for a few days.
    I told the doctors in our home that they said it has nothing to do with my disease.

    "Extremity pain is accompanied by lower extremity numbness.
    Is it polyneuritis? Intestinal obstruction is accompanied by neurological diseases, which diseases should be considered? The new problem stumped me, an old digester.

    It doesn’t matter if the cause of the disease gradually emerges, we can check the information on the Internet if we do not understand.

    After entering the keywords of intestinal obstruction, limb pain, and lower limb numbness into Chinese and English medical websites, I carefully read dozens of related documents and found that the most similar diagnosis to our patient is the legendary porphyria.

    Porphyria is due to the lack of enzyme activity in the heme biosynthesis pathway, which causes abnormally increased concentrations of porphyrin or its precursors, such as δ-aminolevulinic acid and porphobilogen, and accumulates in tissues, causing cell damage.
    A type of metabolic disease caused by.

    Porphyria is a rare disease.
    I have never encountered it in the medical profession for more than 20 years.
    I have only seen it in the literature and in the discussion of difficult medical records.

    There are many types of porphyria, and the clinical symptoms of our patient are more consistent with acute intermittent porphyria.

    Acute intermittent porphyria occurs more frequently in young women.
    Patients aged 20-40 account for 82%.
    It is very rare before puberty and after menopause.
    This is due to the hormone changes in the menstrual cycle of women, which make women more likely to develop the disease. Acute attacks are often induced by external factors, including drugs, infection, drinking, hunger, mental stimulation, menstruation, etc.

    The clinical manifestations of acute intermittent porphyria are mainly acute onset gastrointestinal symptoms and neuropsychiatric abnormalities.

    The accumulation of neurotoxic porphyrin precursor substances acts on the gastrointestinal tract, causing acute abdominal pain.

    The patient has severe abdominal pain and lack of physical signs.
    It is easy to be misdiagnosed as acute abdomen such as intestinal obstruction, acute pancreatitis, and acute appendicitis.

    The aggregation of porphyrin precursor substances acts on the nervous system, causing abnormalities in sensory nerves, motor nerves, autonomic nerves and even the central nervous system.

    Our patient is a young woman with onset during menstruation, not only severe abdominal pain, but also accompanied by limb pain, numbness, paresthesia, motor weakness and motor neuropathy; sweating, tremor and other autonomic nervous system involvement Manifestation; her hyponatremia, which is difficult to correct, is considered to be the syndrome of abnormal secretion of antidiuretic hormone caused by the involvement of the hypothalamus; and the erythema on her face is also considered to be due to the circulation of porphyrin into the skin and exposure to light to generate oxygen free radicals.
    Caused by photosensitive dermatitis.

    Therefore, her symptoms and signs are very consistent with the characteristics of acute intermittent porphyria.

    In order to confirm the diagnosis, it is necessary to detect uroporphyrin and uroporphyrin in order to diagnose the disease by performing a urine test.

    But because this is a rare disease, I contacted the laboratory of many hospitals, but there were no relevant reagents.

    Many inspection companies also do not do this test, but can only do expensive genetic testing.

    How to do it? It seems that we can only do a urine test first.

    The scientific name of the urine test is uroporogen solar test.
    The mechanism is that the colorless porphyrin in the patient’s urine can be converted into colored porphyrin compounds by light.
    Therefore, if the patient’s fresh urine is placed in the sun for several hours, it can be It is brownish red or wine red.

    After giving the first-line doctor the instructions to let the patient urinate, I went to work on other things.

    When I went to see the results of the sun exposure two hours later, I found that the urine did not change color.

    Did I make a mistake in judgment? I took a close look at the patient's urine container and found that it turned out to be a mineral water bottle with a lid.
    How could this achieve the effect of urine exposure! I urged her to change the container, but she changed it to an opaque paper cup.
    When I discovered the problem again, it was getting worse.

    There is no other way but to continue to urinate the next day.

    Fortunately, Father Sun was more upbeat, and the sun was still shining the next day.

    I personally found two urine cups for her and told her to divide into two after urinating.
    One was exposed to the sun and the other was placed in the bathroom as a control.

    I was exhausted at the clinic one morning, but the first thing I did when I returned to the ward was not to drink water and eat, but to go straight to her ward.

    As soon as I entered the ward, the patient’s family members excitedly told me, “Director Xu, the color of urine has changed and darkened!” Figure 5 Photograph of uroporphyrogen insolation test, left side is sun exposure The last urine was wine-red, and the right side was the initial urine.
    Sure enough, her urine turned wine-red after exposure to the sun.
    Our thinking is correct, and the diagnosis of porphyria is basically certain.

    However, because we cannot do uroporphyrin testing, genetic sequencing is still needed to confirm the diagnosis.

    Genetic testing is expensive, and multiple hospitalizations have made the family financially struggling.

    It just so happens that a good friend of mine is engaged in genetic research, and their laboratory can do genetic testing for this disease.

    I informed my friend of the patient's situation and see if she can give the patient some fee reductions.

    My friend happened to have a research project on rare diseases, so she used scientific research funds to give her a free genetic test.

    Start targeted treatment.
    .
    .
    It takes 1 month for genetic testing to have results, but as long as we have a preliminary diagnosis, we can start targeted treatment.

    The treatment method is actually very simple, that is, applying large doses of glucose every day to reduce the production of porphyrin precursor substances.

    After the application of high-dose glucose treatment, the patient's symptoms were quickly relieved, the abdominal pain disappeared, the pain and numbness of the limbs no longer appeared, and the colonoscopy also ruled out the intestinal obstruction caused by the organic disease of the colon.

    The patient went home happily for the New Year.

    More than a month later, the results of genetic testing found that the patient's HMBS gene mutation was confirmed to be acute intermittent porphyria.

    Figure 6 The results of genetic testing.
    Some people like to bask in the car, some like to bask in the sunroom, and some like to bask in the baby, but I often urinate in those days.

    I told my doctors and friends about the changes in the patient's urine color time and time again, just want to share the joy of my success with my friends! Although the profession of our doctor is not high in income and extremely hard, the sense of accomplishment and joy after solving each and every clinical problem is unmatched by other professions! References: [1] Erythrocyte Diseases (Anemia) Group of Hematology Branch of Chinese Medical Association.
    Expert consensus on diagnosis and treatment of porphyria in China (2020) [J].
    Chinese Medical Journal, 2020,100(14):1051-1056.
    [2]Stölzel U, Doss MO, Schuppan D.
    Clinical Guide and Update on Porphyrias.
    Gastroenterology.
    2019;157(2):365-381.
    e4.
    [3] Wang Yan, Chen Xiangyu, Li Ya, Dong Xinhua, Xu Feng .
    Analysis of the clinical characteristics of 50 cases of acute intermittent porphyria[J].
    Chinese Journal of Internal Medicine,2019,58(7):520-524.
    [4]Zhang Junyi,Zhu Yicheng,Cui Liying.
    Recurrent abdominal pain, weakness and breathing difficulties in limbs[J].
    Chinese Journal of Modern Nervous Diseases, 2013, 13(4): 354-357.
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