Persistent renal dysfunction post-chemotherapy: a diagnostic conundrum in pediatric cancer survivorship - a case report.
Bartter syndrome
Case report
Chemotherapy
Chronic kidney disease
Hypokalemia
Metabolic alkalosis
Proteinuria
Journal
BMC pediatrics
ISSN: 1471-2431
Titre abrégé: BMC Pediatr
Pays: England
ID NLM: 100967804
Informations de publication
Date de publication:
31 Oct 2024
31 Oct 2024
Historique:
received:
01
04
2024
accepted:
03
10
2024
medline:
31
10
2024
pubmed:
31
10
2024
entrez:
31
10
2024
Statut:
epublish
Résumé
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. 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. 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.
Sections du résumé
BACKGROUND
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
METHODS
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
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.
Identifiants
pubmed: 39478534
doi: 10.1186/s12887-024-05129-8
pii: 10.1186/s12887-024-05129-8
doi:
Substances chimiques
Antineoplastic Agents
0
Cisplatin
Q20Q21Q62J
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
693Informations de copyright
© 2024. The Author(s).
Références
Besouw MTP, Kleta R, Bockenhauer D. Bartter and Gitelman syndromes: questions of class. Pediatr Nephrol. 2020;35:1815–24.
doi: 10.1007/s00467-019-04371-y
pubmed: 31664557
Fulchiero R, Seo-Mayer P. Bartter Syndrome and Gitelman Syndrome. Pediatr Clin North Am. 2019;66:121–34.
doi: 10.1016/j.pcl.2018.08.010
pubmed: 30454738
Walsh PR, Tse Y, Ashton E, Iancu D, Jenkins L, Bienias M, et al. Clinical and diagnostic features of Bartter and Gitelman syndromes. Clin Kidney J. 2018;11:302–9.
doi: 10.1093/ckj/sfx118
pubmed: 29942493
Panichpisal K, Angulo-Pernett F, Selhi S, Nugent KM. Gitelman-Like syndrome after cisplatin therapy: a case report and literature review. BMC Nephrol. 2006;7:10.
doi: 10.1186/1471-2369-7-10
pubmed: 16723030
pmcid: 1481527
Oronsky B, Caroen S, Oronsky A, Dobalian VE, Oronsky N, Lybeck M, et al. Electrolyte disorders with platinum-based chemotherapy: mechanisms, manifestations and management. Cancer Chemother Pharmacol. 2017;80:895–907.
doi: 10.1007/s00280-017-3392-8
pubmed: 28730291
Miller RP, Tadagavadi RK, Ramesh G, Reeves WB. Mechanisms of Cisplatin Nephrotoxicity. Toxins. 2010;2:2490–518.
doi: 10.3390/toxins2112490
pubmed: 22069563
Latcha S, Jaimes EA, Patil S, Glezerman IG, Mehta S, Flombaum CD. Long–term renal outcomes after Cisplatin Treatment. CJASN. 2016;11:1173–9.
doi: 10.2215/CJN.08070715
pubmed: 27073199
Fallen K, Banerjee S, Sheehan J, Addison D, Lewis LM, Meiler J, et al. The Kir channel immunoglobulin domain is essential for Kir1.1 (ROMK) thermodynamic stability, trafficking and gating. Channels. 2009;3:57–68.
doi: 10.4161/chan.3.1.7817
pubmed: 19221509
Walsh SB, Unwin E, Vargas-Poussou R, Houillier P, Unwin R. Does hypokalaemia cause nephropathy? An observational study of renal function in patients with bartter or Gitelman syndrome. QJM. 2011;104:939–44.
doi: 10.1093/qjmed/hcr095
pubmed: 21705784
Sharma A, Linshaw MA. A novel compound heterozygous ROMK mutation presenting as late onset Bartter syndrome associated with nephrocalcinosis and elevated 1,25(OH)2 vitamin D levels. Clin Exp Nephrol. 2011;15:572–6.
doi: 10.1007/s10157-011-0431-3
pubmed: 21431899
Huang L, Luiken GPM, van Riemsdijk IC, Petrij F, Zandbergen AAM, Dees A. Nephrocalcinosis as adult presentation of Bartter syndrome type II. Neth J Med. 2014 Feb;72:91-3.
Gollasch B, Anistan Y-M, Canaan-Kühl S, Gollasch M. Late-onset Bartter syndrome type II. Clin Kidney J. 2017;10:594–9.
doi: 10.1093/ckj/sfx033
pubmed: 28979772
Li J, Hu S, Nie Y, Wang R, Tan M, Li H, et al. A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome: Case report. Medicine (Baltimore). 2019;98:e16738.
doi: 10.1097/MD.0000000000016738
pubmed: 31441846
Elfert KA, Geller DS, Nelson-Williams C, Lifton RP, Al-Malki H, Nauman A. Late-onset Bartter syndrome type II due to a homozygous mutation in KCNJ1 gene: a case report and literature review. Am J Case Rep. 2020;21.
Tian M, Peng H, Bi X, Wang Y-Q, Zhang Y-Z, Wu Y, et al. Late-onset Bartter syndrome type II due to a novel compound heterozygous mutation in KCNJ1 gene: a case report and literature review. Front Med. 2022;9:862514.
doi: 10.3389/fmed.2022.862514
Saha A, Pande P, Vala K, Kapadia S, Patel H. Clinical exome sequencing uncovers an unsuspected diagnosis of Bartter syndrome type 2 in a child with incidentally detected nephrocalcinosis. CEN Case Rep. 2022;11:417–21.
doi: 10.1007/s13730-022-00694-2
pubmed: 35195872
Khandelwal P, Sabanadesan J, Sinha A, Hari P, Bagga A. Isolated nephrocalcinosis due to compound heterozygous mutations in renal outer medullary potassium channel. CEN Case Rep. 2020;9:232–6.
doi: 10.1007/s13730-020-00464-y
pubmed: 32185747