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7,882 Possible Causes for Abdominal Pain, Mutations in the Cystinosis Gene, Subsarcolemmal Accumulation of Normal Mitochondria

  • Juvenile Cystinosis

    Genatlas disease for CTNS Gene cystinosis,infantile,nephropathic type Additional Disease Information for CTNS A novel gene encoding an integral membrane protein is mutated[genecards.org] […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] pain Computed tomography scanning and magnetic resonance imaging: To evaluate adult patients with infantile nephropathic cystinosis with central nervous system symptoms See[emedicine.medscape.com]

  • Overeating

    A 29-year-old previously healthy female presented with acute onset right upper quadrant pain, abdominal fullness, and nausea.[ncbi.nlm.nih.gov] (Image: Tuned_In/iStock/Getty Images) Nearly everyone has overindulged in good food at least once and has experienced the resulting abdominal discomfort.[livestrong.com] Understandably, this triggers pain. But once you’ve overeaten, as one does during holidays that revolve around feasting, you can’t exactly undo it.[cosmopolitan.com]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Acute Gastroenteritis

    Abstract Visceral hypersensitivity and abnormal coping are common in children with functional abdominal pain disorders (FAPDs).[ncbi.nlm.nih.gov] This disease is characterized by vomiting and/or diarrhea with blood or mucus, discomfort, fever, and nonspecific abdominal pain.[ncbi.nlm.nih.gov] When a patient complains of abdominal pain, the various causes of an acute abdomen or referred pain should be considered.[contemporaryclinic.pharmacytimes.com]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Cystic Fibrosis

    This effect has subsequently been demonstrated in a number of models of other diseases caused by stop mutations, including muscular dystrophy, 15 Hurler's syndrome, 16 cystinosis[doi.org] Here we report the case of an adolescent who suffered acute chest pain in September after an history of acute abdominal pain and fever.[ncbi.nlm.nih.gov] They share similar symptoms e.g. bloating, abdominal pain, but are distinct conditions.[ncbi.nlm.nih.gov]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Urinary Tract Disease

    A person with a kidney infection can also experience: chills fever loin (lower abdominal) pain back pain.[sahealth.sa.gov.au] A hot water bottle or an electric heating pad on a low setting can help relieve cramps or lower abdominal or back pain.[healthyhorns.utexas.edu] In older children, common signs include burning or pain with urination, frequent or urgent urination, fever, lower abdominal pain, new or more frequent incontinence, side[urology.ucsf.edu]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Cystinosis

    Patients with less severe cystinosis gene mutations tend to have better kidney outcome.[cjasn.asnjournals.org] Children with the infantile form of cystinosis may have difficulty with swallowing, vomiting, or abdominal pain.[verywellhealth.com] pain Computed tomography scanning and magnetic resonance imaging: To evaluate adult patients with infantile nephropathic cystinosis with central nervous system symptoms See[emedicine.medscape.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • MELAS Syndrome

    Initially the muscle biopsy may show only muscle fibers with subsarcolemmal accumulation of mitochondria without typical RRF, but all patients with MELAS have RRF in the course[scielo.br] Myoclonic seizures, intractable abdominal pain, and headaches resolved during the concomitant administration of sodium dichloroacetate and vita min B1 in two Japanese siblings[ncbi.nlm.nih.gov] pain were seen only in individual cases.[ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene
  • Ovarian Cystadenoma

    ., Antignac, C. (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.[scindeks.ceon.rs] Their patient had a one-year history of gradual abdominal swelling, which was accompanied by constipation and vague abdominal pain.[jmrh.mums.ac.ir] Patient was admitted in our hospital with abdominal pain of one-month duration.[cancerjournal.net]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Urinary Tract Infection

    Recurrent chronic lower abdominal pain and urinary tract infection in a young person may be due to congenital renal abnormality.[ncbi.nlm.nih.gov] Spontaneous renal artery dissection is a rare clinical entity, and symptoms vary from non-specific abdominal pain to life-threatening hypertension.[ncbi.nlm.nih.gov] Women between 18 and 75 years with suspected UTI and at least two of the symptoms dysuria, urgency, frequency or lower abdominal pain will be assessed for eligibility in general[ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Constipation

    CASE: A 16-year-old female presented with 5 months of chronic, episodic abdominal pain of increasing severity with associated mucoid stools, constipation, encopresis, and[ncbi.nlm.nih.gov] PURPOSE: Abdominal pain is not used to characterize constipated patients.[ncbi.nlm.nih.gov] We present a case of mucosal EG presenting as constipation and abdominal pain in a 43 year old female.[ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria

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