Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
권호 표지

Inborn Metabolic Disorders Involving Kidney

신장계 이상을 동반하는 선천성대사이상질환

  • Beom Hee Lee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
  • 이범희 (울산의대 서울아산병원 소아청소년과)
  • Published : 2023.06.30
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Abstract

Patients with inborn metabolic disorder (IMD) show multisystemic manifestations. Heterogenous renal manifestations can develop in IMD patients as well. In this review, the major renal manifestations of IMD and their representative IMDs are described. The major renal manifestations include Fanconi syndrome, renal tubular acidosis, nephrolithiasis, renal cysts and glomerulopathy, and diverse types of IMDs such as carbohydrate metabolism disorders, lysosomal disorders, organic acidemias, mitochondrial disorders, purine and pyrimidine disorders present renal manifestations. Therefore, general and regular renal function evaluation is recommended in addition to specific investigation according to IMD phenotypes.

Keywords

Acknowledgement

이 연구는 2022년도 한국연구재단 기초연구사업의 지원을 받아 수행된 연구임(NRF-2022R1A2C2091689).

References

  1. Avner ED. Harmon WE, Niaudet P, Yoshikawa N. Pediatric Nephrology. 6th ed. Heidelberg: Springer Berlin, 2009:1219-35.
  2. Evangeliou A, Gogou, M., & Tramma, D. The Kidney involvement in inborn errors of metabolism. World Journal of Research and Review 2017;5:5-9.
  3. Son JS, Seo GH, Kim YM, Kim GH, Jin HK, Bae JS, et al. Clinical and genetic features of four patients with Pearson syndrome: An observational study. Medicine (Baltimore) 2022;101:e28793.
  4. Kim HK, Kim JH, Kim YM, Kim GH, Lee BH, Choi JH, et al. Lowe syndrome: a single center's experience in Korea. Korean J Pediatr 2014;57:140-8. https://doi.org/10.3345/kjp.2014.57.3.140
  5. Yoo HW, Shin YL, Seo EJ, Kim GH. Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia. Eur J Pediatr 2002;161:351-3. https://doi.org/10.1007/s00431-002-0931-y
  6. Choi HJ, Bang HI, Ki CS, Lee SY, Kim JW, Song J, et al. Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I. Ann Clin Lab Sci 2014;44:317-23.
  7. Ahn MB, Kim SE, Cho WK, Jung MH, Suh BK. Endocrine complications during and after adolescence in a patient with cystinosis. Ann Pediatr Endocrinol Metab 2016;21:174-8. https://doi.org/10.6065/apem.2016.21.3.174
  8. Choi HW, Lee YJ, Oh SH, Kim KM, Ryu JM, Lee BH, et al. A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance. Gut Liver 2012;6:126-8. https://doi.org/10.5009/gnl.2012.6.1.126
  9. Cho HY, Lee BH, Choi HJ, Ha IS, Choi Y, Cheong HI. Renal manifestations of Dent disease and Lowe syndrome. Pediatr Nephrol 2008;23:243-9. https://doi.org/10.1007/s00467-007-0686-9
  10. Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, et al. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med 2014;16:e1.
  11. Cao J, Choi M, Guadagnin E, Soty M, Silva M, Verzieux V, et al. mRNA therapy restores euglycemia and prevents liver tumors in murine model of glycogen storage disease. Nat Commun 2021;12:3090.
  12. Cho JH, Choi JH, Heo SH, Kim GH, Yum MS, Lee BH, et al. Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants. Metab Brain Dis 2019;34:1335-40. https://doi.org/10.1007/s11011-019-00441-0
  13. Ng N, Kaur A, Shenoy M. Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Answers. Pediatr Nephrol 2019;34:425-7. https://doi.org/10.1007/s00467-018-4037-9
  14. Kim JH, Park E, Hyun HS, Lee BH, Kim GH, Lee JH, et al. Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria. J Korean Med Sci 2017;32:310-4. https://doi.org/10.3346/jkms.2017.32.2.310
  15. Cheon CK, Lee BH, Ko JM, Kim HJ, Yoo HW. Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. Pediatr Neurol 2010;42:369-71. https://doi.org/10.1016/j.pediatrneurol.2010.01.009