RESUMO
Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disorder with low penetrance, often presenting with a broad spectrum of clinical manifestations. Acute neurovisceral attacks commonly occur in young women, mimicking signs and symptoms of other medical and psychiatric conditions, thus delaying the diagnosis. We present the case of an 18-year-old female college student with recurrent hospitalizations for intractable abdominal pain, now again with pain and new subjective hematuria. The patient had previously undergone an endoscopy/colonoscopy with negative biopsies and serologies for acute pathology, including celiac disease. Celiac studies were repeated, given the possibility of inadvertent gluten exposure before the onset of the latest symptoms, but were negative. Basic labs and repeat imaging, including contrast-enhanced CT, MRI, and magnetic resonance (MR) enterography of the abdomen, continued to be unremarkable, and the patient's symptoms were felt to be functional in etiology. The patient's urinalysis was normal, and pregnancy was also ruled out. The patient continued to have pain despite receiving opiate analgesics, thus prompting a psychiatry consultation. She was diagnosed with acute adjustment disorder with anxiety and was started on hydroxyzine. Due to persistent symptoms, serum and urine samples were sent, revealing low levels of porphobilinogen deaminase (PBGD) and hydroxymethylbilane synthase (HMBS) gene mutation, confirming the diagnosis of AIP. She was treated with oral glucose and outpatient IV hemin infusions with the resolution of symptoms. AIP presents a nonspecific and highly variable clinical picture, often making it a challenging diagnosis due to such a broad differential. While our patient was thought to have acute adjustment disorder due to an unremarkable initial workup, further testing revealed otherwise. This case demonstrates how clinicians must have a high suspicion of AIP when caring for young females, manifesting with neurovisceral and psychiatric signs and symptoms. Timely diagnosis improves a patient's quality of life and can decrease overutilization of healthcare resources.
RESUMO
Acute interstitial nephritis (AIN) is characterized by an inflammatory infiltrate of the interstitium of the kidney, typically causing a decline in kidney function. Drug-induced AIN (also called allergic AIN) is a type of AIN. Common drugs associated with AIN are antibiotics, non-steroidal anti-inflammatory drugs (NSAIDs), and proton pump inhibitors (PPIs). A 59-year-old male with a history of recent laparoscopic robotic sleeve gastrectomy presented to the emergency department with five weeks of progressively worsening fatigue, nausea, and lightheadedness. Postoperatively, he was prescribed omeprazole 20 mg daily for gastric ulcer prophylaxis. His other home medications were amlodipine, atorvastatin, ursodiol, and budesonide-formoterol fumarate nebulizer. His physical examination was normal. Laboratory studies revealed elevated creatinine of 4.19 mg/dL from a baseline of 0.9 mg/dL two months ago and the presence of urine eosinophils. The etiology of this elevated creatinine was unclear, prompting CT-guided left renal biopsy. The biopsy showed diffuse interstitial inflammatory infiltration with numerous lymphocytes, a large number of neutrophils, and scattered eosinophils, consistent with the allergic type of AIN. Omeprazole was discontinued and the patient received a seven-day course of prednisone. Despite treatment, permanent renal damage occurred, and the patient's new baseline creatinine was 2.3 mg/dL. AIN caused by PPIs should be considered in the differential diagnosis of acute kidney injury (AKI). AIN can be difficult to diagnose, presenting with nonspecific symptoms, such as oliguria, malaise, nausea, and vomiting. An accurate and timely diagnosis can help prevent and treat worsening renal failure.