A 5-year-old boy with refractory rickets, polyuria, and hypokalemic metabolic alkalosis: Answers

Pediatric Nephrology volume 36, pages297–302(2021)Cite this article

This is a preview of subscription content, access via your institution.

Access options

Buy single article

Instant access to the full article PDF.

US$ 39.95

Tax calculation will be finalised during checkout.

Fig. 1
Fig. 2
Fig. 3

References

  1. 1.

    Christensen EI, Devuyst O, Dom G, Nielsen R, Van Der Smissen P, Verroust P, Leruth M, Guggino WB, Courtoy PJ (2003) Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules. Proc Natl Acad Sci U S A 100:8472–8477

    CAS  Article  Google Scholar 

  2. 2.

    Bogdanović R, Draaken M, Toromanović A, Đorđević M, Stajić N, Ludwig M (2010) A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency. Pediatr Nephrol 25:2363–2368

    Article  Google Scholar 

  3. 3.

    Cicala MV, Mantero F (2010) Hypertension in Cushing’s syndrome: from pathogenesis to treatment. Neuroendocrinol 92(Suppl 1):44–49

    CAS  Article  Google Scholar 

  4. 4.

    Besbas N, Ozaltin F, Jeck N, Seyberth H, Ludwig M (2005) CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent’s disease. Nephrol Dial Transplant 20:1476–1479

    CAS  Article  Google Scholar 

  5. 5.

    Okamoto T, Tajima T, Hirayama T, Sasaki S (2012) A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5. Eur J Pediatr.171:401–4.

  6. 6.

    Devonald MAJ, Karet F (2004) Renal Epithelial Traffic Jams and One-Way Streets. J Am Soc Nephrol 15:1370–1381

    Article  Google Scholar 

  7. 7.

    Devuyst O, Thakker RV (2010) Dent’s disease. Orphanet J Rare Dis 5:28

    Article  Google Scholar 

  8. 8.

    Scheinman SJ, Cox JP, Lloyd SE, Pearce SH, Salenger PV, Hoopes RR, Bushinsky DA, Wrong O, Asplin JR, Langman CB, Norden AG, Thakker RV (2000) Isolated hypercalciuria with mutation in CLCN5: relevance to idiopathic hypercalciuria. Kidney Int 57:232–239

    CAS  Article  Google Scholar 

  9. 9.

    Devuyst O, Jouret F, Auzanneau C, Courtoy PJ (2005) Chloride channels and endocytosis: new insights from Dent’s disease and ClC-5 knockout mice. Nephron Physiol 99:69–73

    Article  Google Scholar 

  10. 10.

    Nielsen R, Christensen EI, Birn H (2016) Megalin and cubilin in proximal tubule protein reabsorption: from experimental models to human disease. Kidney Int89:58–67.

  11. 11.

    Claverie-Martın F, Ramos-Trujillo E, Garcı´a-Nieto V (2011) Dent’s disease: clinical features and molecular basis. Pediatr Nephrol 26:693–704.

  12. 12.

    Jentsch TJ (2007) Chloride and the endosomal-lysosomal pathway: emerging roles of CLC chloride transporters. J Physiol 578:633–640

    CAS  Article  Google Scholar 

  13. 13.

    Erdmann KS, Mao Y, McCrea HJ, Zoncu R, Lee S, Paradise S, Modregger J, Biemesderfer D, Toomre D, De Camilli P (2007) A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway. Dev Cell 13:377–390

    CAS  Article  Google Scholar 

  14. 14.

    Lieske JC, Milliner DS, Beara-Lasic L, Harris P, Cogal A, Abrash E (2012) Dent Disease. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, et al., editors. GeneReviews® [Internet] Seattle (WA). University of Washington, Seattle, (1993-2020. Available from: http://www.ncbi.nlm.nih.gov/books/NBK99494/)

  15. 15.

    Ludwig M, Utsch B, Balluch B, Fründ S, Kuwertz-Bröking E, Bökenkamp A (2006) Hypercalciuria in patients with CLCN5 mutations. Pediatr Nephrol 21:1241–1250

    Article  Google Scholar 

  16. 16.

    Sethi SK, Ludwig M, Kabra M, Hari P, Bagga A (2009) Vitamin A responsive night blindness in Dent’s disease. Pediatr Nephrol 24:1765–1770

    Article  Google Scholar 

  17. 17.

    Bokenkamp A, Bockenhauer D, Cheong H Il, Hoppe B, Tasic V, Unwin R, Ludwig M (2009) Dent-2 disease: a mild variant of Lowe syndrome. J Pediatr 155:94–99.

  18. 18.

    Bhardwaj S, Thergaonkar R, Sinha A, Hari P, Hi C, Bagga A (2016) Phenotype of dent disease in a cohort of Indian children. Indian Pediatr 53:977–982

    Article  Google Scholar 

  19. 19.

    Moulin P, Igarashi T, Van Der Smissen P, Cosyns JP, Verroust P, Wrong O, Thakker RV, Scheinman SJ, Courtoy PJ, Devuyst O (2003) Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent’s disease patients. Kidney Int 63:1285–1295

    CAS  Article  Google Scholar 

  20. 20.

    Besouw MTP, Kleta R, Bockenhauer D (2019) Bartter and Gitelman syndromes: questions of class. Pediatr Nephrol [Epub ahead of print]

  21. 21.

    Ertan P, Evrengul H, Ozen S, Emre S (2012) A patient with cystinosis presenting like Bartter syndrome and review of literature. Iran J Pediatr 22:543–546

    PubMed  PubMed Central  Google Scholar 

  22. 22.

    Raja KA, Schurman S, D’MelloRG,Blowey D, Goodyer P, Van Why S, Ploutz-Snyder RJ, Asplin J, Scheinman SJ (2002) Responsiveness of hypercalciuria to thiazide in Dent’s disease. J Am Soc Nephrol 13:2938–2944.

  23. 23.

    Blanchard A, Curis E, Guyon-Roger T, Kahila D, Treard C, Baudouin V, Bérard E, Champion G, Cochat P, Dubourg J, de la Faille R, Devuyst O, Deschenes G, Fischbach M, Harambat J, Houillier P, Karras A, Knebelmann B, Lavocat MP, Loirat C, Merieau E, Niaudet P, Nobili F, Novo R, Salomon R, Ulinski T, Jeunemaître X, Vargas-Poussou R (2016) Observations of a large Dent disease cohort. Kidney Int 90:430–439

    Article  Google Scholar 

  24. 24.

    Copelovitch L, Nash MA, Kaplan BS (2007) Hypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis. Clin J Am Soc Nephrol 2:914–918

    CAS  Article  Google Scholar 

  25. 25.

    van Berkel Y, Ludwig M, van Wijk JAE, Bökenkamp A (2017) Proteinuria in Dent disease: a review of the literature. Pediatr Nephrol 32:1851–1859

    Article  Google Scholar 

  26. 26.

    Cebotaru V, Kaul S, DevuystO,Cai H, Racusen L, Guggino WB, Guggino SE (2005) High citrate diet delays the progression of renal insufficiency in the CLC-5 knockout mouse model of Dent’s disease. Kidney Int 68:642–652.

  27. 27.

    Ehlayel AM, Copelovitch L (2019) Update on Dent disease. Pediatr Clin N Am 66:169–178

    Article  Google Scholar 

  28. 28.

    Gabriel SS, Belge H, Gassama A, Debaix H, Luciani A, Fehr T, Devuyst O (2017) Bone marrow transplantation improves proximal tubule dysfunction in a mouse model of Dent disease. Kidney Int 91:842–855

    Article  Google Scholar 

Download references

Author information

Affiliations

  1. Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India

    Aakash Chandran Chidambaram, Sriram Krishnamurthy, Saragondlu Lakshminarasappa Darshith, Pediredla Karunakar, Bobbity Deepthi, Dhandapany Gunasekaran & Jaikumar Govindaswamy Ramamoorthy

Authors
  1. Aakash Chandran Chidambaram
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Sriram Krishnamurthy
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Saragondlu Lakshminarasappa Darshith
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Pediredla Karunakar
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Bobbity Deepthi
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Dhandapany Gunasekaran
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Jaikumar Govindaswamy Ramamoorthy
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

Aakash Chandran Chidambaram, Saragondlu Lakshminarasappa Darshith, Pediredla Karunakar, Bobbity Deepthi, Dhandapany Gunasekaran, and Jaikumar Govindaswamy Ramamoorthy managed the patient, reviewed the literature, and drafted the manuscript. Sriram Krishnamurthy managed the patient, reviewed the literature, and critically revised the manuscript. All authors contributed to reviewing of literature and drafting of the manuscript, and approved the final version of the manuscript. Sriram Krishnamurthy shall act as the guarantor of the paper.

Corresponding author

Correspondence to Sriram Krishnamurthy.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

"This refers to the article that can be found at http://dx.doi.org/10.1007/s00467-020-04610-7.”

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Chidambaram, A.C., Krishnamurthy, S., Darshith, S.L. et al. A 5-year-old boy with refractory rickets, polyuria, and hypokalemic metabolic alkalosis: Answers. Pediatr Nephrol 36, 297–302 (2021). https://doi.org/10.1007/s00467-020-04616-1

Download citation

Keywords

  • Refractory rickets
  • Polyuria
  • Hypokalemic metabolic alkalosis
  • Dent’s disease
  • Pseudo-Bartter