JPGN reports最新文献

d-Lactic acidosis is a rare type of lactic acidosis that typically presents in patients with short bowel syndrome (SBS). Clinical features include a high anion-gap metabolic acidosis and acute onset of neurological impairment. The underlying pathology is thought to be due to altered gut flora and carbohydrate malabsorption in patients with altered gut anatomy. The treatment centers on correcting acid-base derangements, dietary modifications to decrease carbohydrate intake and antibiotics. We present a case of recurrent d-lactic acidosis in a patient with SBS. In this unique case, we highlight the importance of considering the home environment when developing a treatment plan.

A 13-year-old female with a history of congenital left lower leg lymphedema, multiple food allergies, including an immunoglobulin E mediated severe cow's milk allergy, and well-controlled moderate persistent asthma was hospitalized with left lower leg erysipelas and Group A Streptococcus septicemia. While hospitalized, immediately after exposure to cow's milk protein as an inactive ingredient within a probiotic, she developed anaphylaxis with respiratory failure requiring intubation. This is only the third reported case of anaphylaxis due to a probiotic. Additionally, it raises issues inherent to the electronic medical record with respect to its inability to identify allergens in supplements as opposed to medications.

Kinetic magnetic sand, composed of ultra-fine sand and dimethicone in a 98%-2% ratio, is a versatile sensory toy known for its moldable properties and structural stability (1). Despite the name, it lacks actual magnetic features. Ingesting kinetic sand can pose risks, including choking and gastrointestinal issues, especially in young children. This case report details a unique incident involving a 3-year-old who ingested a significant amount of kinetic sand. Although the sand's ingredients are generally hypoallergenic and nontoxic, its grainy texture presented challenges for retrieval. The patient was closely monitored, and ultimately, the sand passed without complications. While no official guidelines exist for managing such cases, individual assessments, considering factors such as ingestion time, symptoms, and age, are crucial for determining the appropriate course of action, which may range from observation to more invasive procedures like endoscopy or surgery.

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease that may involve any organ in the body. Inflammation of the bowel wall as a presenting symptom of SLE is uncommon and can lead to delays in diagnosis and treatment. Here, we discuss the case of an adolescent male who presented with weight loss, intermittent fevers, abdominal pain, vomiting, and diarrhea. Initially, inflammatory bowel disease (IBD) was suspected, but endoscopic evaluation did not support this diagnosis. A computed tomography scan of the abdomen revealed signs of serositis, concerning for an inflammatory process and the patient was referred to Rheumatology for further evaluation. Autoimmune serologies were obtained and combined with clinical findings confirmed a diagnosis of SLE. This case advances our understanding of SLE as a multisystemic disease and highlights an unusual presentation involving the gastrointestinal tract, which can mimic IBD and potentially delay the diagnosis and treatment process.

Pediatric macrocytic anemia has a varied etiology, including nutritional deficiencies, such as folate or B12 deficiency, hematological factors, and micronutrient deficiencies, such as copper deficiency. We present the case of a 9-year-old girl with a complex medical history and gastrojejunal tube (G-J tube)-dependent nutrition who developed macrocytic anemia due to copper deficiency. Despite receiving enteral nutrition, her dietary copper intake was insufficient, leading to hematological abnormalities. Copper supplementation resulted in the normalization of hematological indices, highlighting the importance of considering trace element deficiencies in patients reliant on enteral nutrition, particularly in those receiving jejunal feeds. This case underscores the necessity for vigilant monitoring and optimized micronutrient supplementation in such patients given the lack of standardized guidelines for copper supplementation.

Glucagon-like peptide-2 (GLP2) acts on the GLP2 receptor (GLP2R) and plays a role in intestinal growth and adaptation. The endogenous actions of GLP2R do not have an established association with human disease, although mouse-knockout models in a stressed state show enhanced susceptibility to small bowel injury, increased morbidity, mortality, and abnormal host-bacterial interactions. We report an 11-month-old female with multiple intensive care unit admissions for severe metabolic acidosis due to profuse nonbloody diarrhea in the context of various infections. She had normal growth, lab testing, and stooling patterns between illnesses. Trio-whole genome sequencing revealed homozygous nonsense variants resulting in nonfunctional GLP2R. This is the first known human documented with a GLP2R-deficient phenotype, resulting in clinical illness, which correlates with the findings in the GLP2R mouse knockout model and furthers our understanding of GLP2R and the action of teduglutide, a GLP2 analog used for the treatment of short bowel syndrome.

Individuals with intestinal failure are at risk of micronutrient deficiencies, including iodine, an essential trace element critical for thyroid hormone production. In patients entirely dependent on parenteral nutrition, options for replenishing and maintaining iodine levels are severely restricted as oral forms have limited absorption, and intravenous alternatives are unavailable. Ethiodized oil (Lipiodol-TM) is an iodinated contrast agent with an unusually long half-life that can be given orally or injected into a target organ. We report the successful use of intramuscular injection of ethiodized oil in treating goiter in a patient with total entero-colectomy and in sustaining long lasting thyroid function for over 5 years.

Hepatotoxicity is an under-recognized and potentially fatal side effect of high-dose methotrexate (HDMTX) chemotherapy, and this risk is compounded in children with metabolic dysfunction-associated steatotic liver disease and/or metabolic-associated steatohepatitis. We present the case of a 12-year-old obese, Hispanic male with elevated hepatic transaminases of unknown etiology at initiation of high-risk B-cell acute lymphoblastic leukemia chemotherapy. He developed acute kidney injury within 24 hours of receiving intravenous HDMTX which progressed to acute hepatic failure. Liver biopsy confirmed methotrexate toxicity aggravated by undiagnosed metabolic dysfunction-associated steatotic liver disease. Rapid deterioration precluded liver transplantation, and he died 21 days after HDMTX treatment. This case highlights the need for comprehensive hepatic evaluation in patients with known or suspected liver disease when administering HDMTX. Dialysis should be considered if delayed methotrexate clearance occurs due to potential for rapid, irreversible hepatotoxicity.

Objectives: Upadacitinib (UPA), a selective Janus kinase-1 inhibitor, has demonstrated efficacy in inducing and maintaining remission in moderate to severe ulcerative colitis (UC) in adults. Current standard management for acute severe ulcerative colitis (ASUC) involves intravenous corticosteroids (IVCS) followed by infliximab (IFX) salvage therapy. Limited data exist on the utility of UPA in ASUC, particularly in adolescents. This case series reports the use of UPA as salvage therapy in hospitalized adolescents experiencing ASUC refractory to IFX.

Methods: We performed a retrospective chart review of hospitalized patients with ASUC who received UPA as salvage therapy after initiation of IVCS and failure of IFX.

Results: Three adolescents were hospitalized with ASUC for which IFX infusion treatments were unsuccessful. Initiation of UPA enabled patients to improve their Pediatric Ulcerative Colitis Activity Index scores to ≤35 and be discharged home. Hospitalization course, complications, and follow-up information are provided.

Conclusion: UPA is a promising short-term salvage therapy in adolescent ASUC cases resistant to conventional treatments. Prospective studies are warranted to elucidate its long-term efficacy and safety in this specific population. These findings provide a novel therapeutic avenue for managing ASUC in adolescents, offering hope for those encountering treatment challenges.

Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a rare disorder characterized by chronic cholestasis usually progressing to end-stage liver disease (ESLD) within the first two decades of life. PFIC-3 is caused by pathogenic genetic variants of the ATP-binding cassette 4 (ABCB4) gene with variable inheritance; the most common is autosomal recessive. We present two cases of PFIC-3 with genetic testing confirming a novel genetic variant in ABCB4 with homozygous genotype c.779 T > C, p.L260P. Both individuals are from mainland Southeast Asia and have a clinical picture consistent with cholestasis progressing to ESLD.