Related Experiment Video
Updated: Jun 9, 2025
A Syngeneic Mouse Model of Metastatic Renal Cell Carcinoma for Quantitative and Longitudinal Assessment of Preclinical Therapies
Published on: April 12, 2017
Persistent renal dysfunction post-chemotherapy: a diagnostic conundrum in pediatric cancer survivorship - a case
Jhao-Jhuang Ding1,2, Shih-Hua Lin3, Tai-Wei Wu4,5
1Department of Pediatrics, New Taipei Municipal TuCheng Hospital, Chang Gung Memorial Hospital, New Taipei, Taiwan.
Insights
Late-onset type II Bartter syndrome is rare, but this case shows it can occur after childhood chemotherapy. Early identification and management are key for patients with electrolyte imbalances and kidney issues.
Area of Science:
- Pediatric Nephrology
- Genetics
- Oncology
Background:
- Late-onset type II Bartter syndrome is exceptionally rare, with few cases reported beyond infancy.
- This report details a unique case of late-onset type II Bartter syndrome with an atypical presentation and clinical course.
- The patient had a history of childhood chemotherapy for hepatoblastoma.
Observation:
- A 10-year-old boy presented with polyuria, polydipsia, failure to thrive, and significant electrolyte imbalances post-chemotherapy.
- Diagnostic evaluations revealed hypokalemia, metabolic alkalosis, and elevated urinary electrolyte excretion.
- Genetic analysis identified compound heterozygous variants in the KCNJ1 gene, confirming Bartter syndrome type II.
Findings:
- The patient exhibited an atypical clinical course, lacking nephrocalcinosis and presenting with small, hyperechoic kidneys and declining renal function.
- Compound heterozygous variants in KCNJ1 were confirmed as the cause of Bartter syndrome type II.
- Treatment involved potassium supplementation, spironolactone, and ACE inhibitors.
Implications:
- This case underscores the need to consider late-onset Bartter syndrome in chemotherapy-treated patients with persistent electrolyte disturbances and renal dysfunction.
- Atypical features and rapid chronic kidney disease progression may stem from genetic variant severity and chemotherapy's impact on kidney health.
- Close monitoring of electrolytes and renal function is critical for managing these complex cases.
Background:
Late-onset type II Bartter syndrome is an exceedingly rare condition, with only six documented cases presenting symptoms and signs beyond infancy. We report a unique case of late-onset type II Bartter syndrome with an atypical presentation and clinical course following chemotherapy treatment during childhood.
Case Presentation:
A 10-year-old boy, diagnosed with hepatoblastoma at age 2 and treated with cisplatin and epirubicin, presented with polyuria, polydipsia, failure to thrive, and electrolyte imbalances. He exhibited hypokalemia, metabolic alkalosis, and elevated urinary excretion of sodium, chloride, calcium, and magnesium. Whole exome sequencing and Sanger sequencing identified compound heterozygous variants in the KCNJ1 gene, confirming the diagnosis of type II Bartter syndrome. The patient's clinical presentation was distinct from previously reported cases, with an absence of nephrocalcinosis, unusually small and hyperechoic kidneys, and a substantial decline in kidney function. Treatment included oral potassium supplementation, spironolactone, and angiotensin-converting enzyme inhibitors.
Conclusions:
This case highlights the importance of considering late-onset Bartter syndrome in patients with a history of chemotherapy presenting with persistent electrolyte imbalances and ongoing renal dysfunction. The atypical features and rapid progression of chronic kidney disease in this patient may be attributed to the deleterious nature of the identified variants and the potential impact of previous chemotherapy on kidney susceptibility to damage. Careful monitoring and management of electrolyte imbalances and renal function are crucial in such cases.
Related Concept Videos
01:17Factors Affecting Renal Clearance: Renal Impairment
One condition associated with renal failure is uremia. Uremia is characterized by impaired glomerular filtration and fluid accumulation in the body. This condition hinders the renal clearance of drugs, resulting in drug accumulation and potential...
01:11Renal Failure: Dose Adjustments
Reduced renal clearance and elimination rate are common outcomes of renal impairment. These alterations lead to a prolonged elimination half-life and an altered apparent volume of distribution for drugs. As a result, dosage adjustments are typically necessary to maintain optimal drug levels in the body.
However, dosage adjustments...