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Ureteropelvic Junction Obstruction and Parathyroid Adenoma: Coincidence or Link?
Salah Termos1, Majd AlKabbani1, Tim Ulinski2
1Hepatobiliary and Transplant Unit, Department of Surgery, Al-Amiri Hospital, Kuwait City, Kuwait.
Insights
Congenital ureteropelvic junction obstruction (UPJO) in children can be linked to primary hyperparathyroidism (PHPT). Treating PHPT may resolve kidney stones, potentially avoiding surgery for UPJO.
Area of Science:
- Pediatric Urology
- Nephrology
- Medical Genetics
Background:
- Congenital ureteropelvic junction obstruction (UPJO) is a common cause of pediatric upper urinary tract obstruction, often diagnosed antenatally.
- UPJO can be associated with urolithiasis, necessitating thorough investigation.
Observation:
- A 15-year-old boy with known right UPJO presented with renal colic and bilateral kidney stones.
- Further investigations revealed primary hyperparathyroidism (PHPT) and a CDC73 gene mutation.
Findings:
- The case suggests a rare association between UPJO and PHPT.
- Genetic analysis identified a CDC73 mutation, linking the patient's condition to a specific genetic cause of PHPT.
Implications:
- Children with UPJO and urolithiasis require careful work-up to rule out underlying metabolic disorders like PHPT.
- Addressing the primary cause (PHPT) may lead to kidney stone dissolution and improve the overall medical condition, potentially obviating the need for surgical correction of UPJO.
Abstract:
Congenital ureteropelvic junction obstruction (UPJO) is the most common cause of upper urinary tract obstruction in children. It is generally diagnosed in the routine work-up during antenatal period and is characterized by spontaneous recovery. It can be associated with urolithiasis; hence further investigation should be carried out. We report the case of a 15-year-old boy, who is known to have right UPJO, presented with right renal colic and discovered to have bilateral kidney stones. Further studies showed primary hyperparathyroidism and genetic analysis revealed a CDC73 mutation (initially HRPT2). We believe that association of UPJO and PHPT is a rare coincidence that can be linked. Careful work-up of children with UPJO and urolithiasis is recommended to exclude an underlying metabolic disease. Surgical correction can be evitable as treatment of the primary cause can lead to complete dissolution of kidney stones and improvement of the medical condition.
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