Skip to main content
SpringerLink
Log in

A 7-year-old girl presenting with a Bartter-like phenotype: Answers

  • Clinical Quiz
  • Published:
Pediatric Nephrology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

References

  1. Seyberth HW, Schlingmann KP (2011) Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. Pediatr Nephrol 26:1789–1802

    Article  PubMed  PubMed Central  Google Scholar 

  2. DiMauro S, Schon EA (2003) Mitochondrial respiratory chain diseases. N Engl J Med 348:2656–2668

    Article  CAS  PubMed  Google Scholar 

  3. Che R, Yuan Y, Huang S, Zhang A (2014) Mitochondrial dysfunction in the pathophysiology of renal diseases. Am J Physiol Renal Physiol 306:F367–F378

    Article  CAS  PubMed  Google Scholar 

  4. Niaudet P, Rötig A (1997) The kidney in mitochondrial cytopathies. Kidney Int 51:1000–1007

    Article  CAS  PubMed  Google Scholar 

  5. Saudubray JM, Martin D, de Lonlay P, Touati G, Poggi-Travert F, Bonnet D, Jouvet P, Boutron M, Slama A, Vianey-Saban C, Bonnefont JP, Rabier D, Kamoun P, Brivet M (1999) Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis 22:488–502

    Article  CAS  PubMed  Google Scholar 

  6. Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV, Abulhoul L, Grunewald S, Clayton PT, Hanna MG, Poulton J, Rahman S (2015) Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. J Inherit Metab Dis 38:445–457

    Article  CAS  PubMed  Google Scholar 

  7. Martin-Hernández E, Garcia-Silva MT, Vara J, Campos Y, Cabello A, Muley R, del Hoyo P, Martín MA, Arenas J (2005) Renal pathology in children with mitochondrial diseases. Pediatr Nephrol 20:1299–1305

    Article  PubMed  Google Scholar 

  8. Matsutani H, Mizusawa Y, Shimoda M, Niimura F, Takeda A, Shimohira M, Iwakawa Y (1992) Partial deficiency of cytochrome c oxidase with isolated proximal renal tubular acidosis and hypercalciuria. Child Nephrol Urol 12:221–224

    CAS  PubMed  Google Scholar 

  9. Katsanos KH, Elisaf M, Bairaktari E, Tsianos EV (2001) Severe hypomagnesemia and hypoparathyroidism in Kearns–Sayre syndrome. Am J Nephrol 21:150–153

    Article  CAS  PubMed  Google Scholar 

  10. Goto Y, Itami N, Kajii N, Tochimaru H, Endo M, Horai S (1990) Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns–Sayre syndrome. J Pediatr 116:904–910

    Article  CAS  PubMed  Google Scholar 

  11. Emma F, Pizzini C, Tessa A, Di Giandomenico S, Onetti-Muda A, Santorelli FM, Bertini E, Rizzoni G (2006) “Bartter-like” phenotype in Kearns–Sayre syndrome. Pediatr Nephrol 21:355–360

    Article  PubMed  Google Scholar 

  12. Menegon LF, Amaral TN, Gontijo JA (2004) Renal sodium handling study in an atypical case of Bartter’s syndrome associated with mitochondriopathy and sensorineural blindness. Ren Fail 26:195–197

    Article  CAS  PubMed  Google Scholar 

  13. Zeviani M, Gellera C, Pannacci M, Uziel G, Prelle A, Servidei S, Didonato S (1990) Tissue distribution and transmision of mitochondrial DNA deletions in mitochondrial myopathies. Ann Neurol 28:94–97

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

This study was supported by a grant (HI12C0014) from the Korean Health Technology R&D Project, Ministry of Health & Welfare, Republic of Korea.

Author information

Authors and Affiliations

  1. Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, 03080, Korea

    Yunsoo Choe, Eujin Park, Hye Sun Hyun, Jung Min Ko, Hee Gyung Kang & Hae Il Cheong

  2. Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea

    Jung Min Ko, Hee Gyung Kang & Hae Il Cheong

  3. Department of Biomedical Sciences, Clinical Sciences, and Ophthalmology, Seoul National University College of Medicine, Seoul, Korea

    Jeong Hun Kim

  4. Department of Pathology, Seoul National University College of Medicine, Seoul, Korea

    Sung-Hye Park

  5. Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea

    Hae Il Cheong

Authors
  1. Yunsoo Choe
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Eujin Park
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Hye Sun Hyun
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Jung Min Ko
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Hee Gyung Kang
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Jeong Hun Kim
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Sung-Hye Park
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Hae Il Cheong
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Hae Il Cheong.

Ethics declarations

Conflicts of interest

None

Informed consent

Informed consent was obtained from the child and her parents.

Additional information

This refers to the article that can be found at doi:10.1007/s00467-016-3473-7.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Choe, Y., Park, E., Hyun, H.S. et al. A 7-year-old girl presenting with a Bartter-like phenotype: Answers. Pediatr Nephrol 32, 983–985 (2017). https://doi.org/10.1007/s00467-016-3480-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00467-016-3480-8

Keywords

Search

Navigation