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    Home > Active Ingredient News > Endocrine System > After ingesting protein, vomiting, diarrhea, coma, weakness... Only 200 rare cases were reported worldwide to be diagnosed

    After ingesting protein, vomiting, diarrhea, coma, weakness... Only 200 rare cases were reported worldwide to be diagnosed

    • Last Update: 2022-09-20
    • Source: Internet
    • Author: User
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    Unexplained diarrhea, vomiting, lasted for half a year, the subcutaneous fat was exhausted, too weak to get out of bed, almost became a "paper man"! The 5-year-old boy Chengcheng (pseudonym) suffered from a "strange disease" and went to many places to seek medical treatment for no reason


    Originally, the inheritor suffered from a rare disease called lysine urine protein intolerance, due to genetic mutations, after ingesting protein, vomiting, diarrhea, coma, weakness and other symptoms


    The little boy got into a "strange disease" and could not be diagnosed by seeking medical treatment

    5-year-old Chengcheng was a healthy, lively and cheerful child since he was a child, but since the addition of complementary foods, Chengcheng's mother found that he only loves to eat staple foods and vegetables, and is unwilling to touch fish, meat, eggs, milk and other meat dishes, but seeing that he looks white and fat, his parents will obey his wishes


    Since entering kindergarten at the age of 3, the teacher has tried his best to help Chengcheng get rid of his bad habit of picky eating, but Chengcheng seems


    At first, the adults were not too worried, because in addition to loving his parents, the family also added a little brother, he loved his brother very much, often played with him, took photos and videos together, and recorded their happy time


    A few months ago, Chengcheng developed fever symptoms, accompanied by bloating, vomiting, mental deterioration, and drowsiness symptoms, after going to the local children's hospital for diagnosis and treatment, the doctor considered Chengcheng suffering from intestinal obstruction and underwent surgical treatment, but did not alleviate Chengcheng's symptoms


    After the operation, Chengcheng still had frequent vomiting, diarrhea, and intractable hyponatremia, and long-term sodium supplementation was required to maintain electrolyte balance


    In order to further find out the cause and treat the disease, Chengcheng's family has successively traveled to Fuzhou, Guangzhou, Beijing and other hospitals, and the gastrointestinal endoscopy and the investigation of various infectious indicators have not been able to give Xiao Chengcheng's symptoms a clear etiological diagnosis


    Fat dolls become "paper people" and countless examinations are done

    During the period of medical treatment in many places, the inheritance repeatedly appeared high fever, diarrhea and hyponatremia, the original fat doll was thin into a malnourished child, thin like a "paper man", the two arms were covered with dense needle eyes, and countless examinations were done in hospitalizations, these report sheets and laboratory test sheets have long been as thick as books, and doctors can think of various examination tests, even PET-CT, hematuria tandem mass spectrometry, genetic testing, etc.


    Children over 5 years old are enjoying a happy childhood and playing freely, but Chengcheng has experienced too many tribulations


    Chengcheng's mother was originally very optimistic, but because she was worried about Chengcheng's illness, she often frowned and silently sighed and cried


    Xiao Chengcheng's family was once in despair, they did not understand why a child who was originally healthy and healthy suddenly became seriously ill in just a few months, and even many medical treatments could not get the correct answer


    Compared with hundreds of rare diseases, the cause of the willow dark flower was found

    Almost collapsed, the family came to Shanghai Xinhua Hospital with the last glimmer of expectation


    A few days after admission, Chengcheng appeared hematuria, proteinuria, this new symptom requires the intervention of a kidney specialist, when he transferred to the pediatric renal rheumatology and immunology department, Chengcheng has been repeated diarrhea, vomiting, intermittent fever, stubborn hyponatremia for more than 6 months, subcutaneous fat is almost exhausted, weak almost unable to get out of bed


    Could it be Senior Loken syndrome? This is a disease that affects both the tubular renal parenchyma and the retina, and because Xiao Chengcheng has both renal lesions and bilateral pupils of unequal enlargement, Xiao Chengcheng's parents have rekindled the hope


    At great risk, Chengcheng underwent a renal puncture biopsy, and the postoperative pathological report considered that he had IgA nephropathy, a primary glomerular disease, the most common type of chronic nephritis in China, but it is clear that this is not the source


    The news from the ophthalmology department also denied the possibility of Senior Loken syndrome, and everything went back to the beginning
    .

    Dr.
    Dong Yu, Xiao Chengcheng's attending doctor, was confused and pondered
    .
    Director Wei Minjiang, Director Guo Guimei and Director Wu Weilan of the expert group repeatedly understand the condition every day, update the test results and the progress of the disease, in the face of repeated episodes of high fever, diarrhea, hyponatremia, kidney lesions, nervous system involvement, considering the disease of a single system can never explain his complex condition, what makes Xiao Cheng's bed entangled?

    In the process of constant thinking, discussing, searching for literature and mutual confirmation, the doctors of the Department of Pediatric Kidney Rheumatology and Immunology finally found a little clue -

    The clinical manifestations of hundreds of rare diseases were found, and after comparative analysis with the inherited disease, it was considered that the cause may be a rare genetic disease
    called "lysine urinary protein intolerance".
    Through molecular biology technology testing, it was confirmed that he did have specific gene expression abnormalities, and experts gave Xiao Chengcheng a treatment plan corresponding to this rare disease, such as supplementation with lysine, citrulline, etc
    .

    A surprising situation occurred, and Chengcheng's condition was significantly improved
    .

    Only 200 cases have been reported worldwide, and the lifelong treatment of the disease is controllable

    According to experts, lysine urine protein intolerance (LPI) is an extremely rare genetic metabolic disease, autosomal recessive inheritance, caused by genetic mutations, so far there are only about 200 reported cases of related cases
    worldwide.
    After ingesting proteins containing amino acids such as lysine, ornithine, and arginine, patients experience vomiting
    , diarrhea, feeding difficulties, coma, stunted growth, and weakness.

    Lysine urine protein intolerance is a lifelong disease, can not be cured, requires long-term continuous treatment, which is mainly through citrulline replacement therapy, or the use of glucocorticoids, active vitamin D, and intravenous arginine treatment, while alleviating symptoms through dietary regulation, generally without surgical treatment, but generally does not affect the natural lifespan
    .

    Once the cause is clear, there is hope
    for the path of recovery.
    Under the active treatment of medical staff, Xiao Chengcheng's condition has improved, his physical condition has gradually improved, his condition has been controlled, and Xiao Chengcheng and his family have gradually returned to normal life
    .

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