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A pediatric case of ureterolithiasis due to cystinuria accompanied by acute appendicitis; a case report
Tomohiro Hiraoka1, Mai Kawamura2, Keisuke Takada2
1Department of Pediatrics, Iwakuni Clinical Center, Yamaguchi, Japan; Department of Emergency, Critical Care, and Disaster Medicine, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama, Japan.
Insights
Concurrent appendicitis and ureterolithiasis in a child due to cystinuria is rare. Early diagnosis of cystinuria and prompt treatment of both conditions are crucial for better outcomes.
Area of Science:
- Pediatric Gastroenterology
- Pediatric Nephrology
- Medical Genetics
Background:
- Acute abdominal pain is a common emergency department presentation with diverse causes.
- Ureterolithiasis, while less common in children, can stem from hereditary metabolic disorders.
- Renal colic in pediatric patients may indicate underlying genetic conditions.
Observation:
- A 12-year-old girl presented with abdominal pain.
- Diagnosis revealed concurrent acute appendicitis and ureterolithiasis.
- The ureterolithiasis was attributed to cystinuria, a hereditary metabolic disease.
Findings:
- Appendicitis was treated successfully with cefmetazole.
- Ureterolithiasis resolved after adequate fluid resuscitation.
- Diagnostic imaging (urinalysis, ultrasound, CT) identified both appendicitis and ureterolithiasis.
Implications:
- Synchronous appendicitis and ureterolithiasis is an uncommon but significant clinical presentation.
- Cystinuria, a hereditary metabolic disorder, can manifest with kidney stones in childhood.
- Early identification and management of cystinuria are vital for preventing recurrent stones and complications.
Introduction:
Acute abdominal pain, a chief complaint frequently seen in the emergency department, can be triggered by a vast range of conditions. Although ureterolithiasis is a less common cause in children, renal colic can be caused by calculi due to hereditary metabolic diseases among patients in those age groups.
Presentation Of Case:
We report a 12-year-old girl with abdominal pain who was diagnosed with concurrent acute appendicitis and ureterolithiasis due to cystinuria. Acute appendicitis was successfully treated with cefmetazole, and the calculus was eliminated after adequate fluid loading.
Discussion:
Synchronous acute appendicitis and ureterolithiasis is reported to be rare. Cystinuria is a hereditary metabolic stone-forming disease, and the first calculi can be detected in childhood. Increasing the solubility of cystine in the urine is required to prevent recurrent stone formation and accompanying complications. Urinalysis, ultrasound, and computed tomography coincidentally demonstrated two different acute pathological processes of ureterolithiasis and appendicitis.
Conclusion:
Careful physical and laboratory examination can help clinicians find coexisting etiologies of acute abdominal pain. Ureterolithiasis can be seen in children with hereditary disorders such as cystinuria. Early diagnosis of cystinuria and close monitoring may lead to a better long-term outcome.
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