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Case Report
Rickets secondary to cystinosis-induced renal Fanconi syndrome: A case report
1 MD Candidate, School of Medicine, University of Texas Medical Branch (UTMB), Galveston, Texas, United States of America
2 MD, Professor, Department of Pediatrics, University of Texas Medical Branch (UTMB), Galveston, Texas, United States of America
3 MD, Department of Pediatrics, Jordan Hospital, Amman, Jordan
4 D, FAAP, Chairperson, Department of Pediatrics, Jordan Hospital, Amman, Jordan
5 MPH, Director of Programs and Adjunct Assistant Professor, Center for Global and Community Health and Department of Pediatrics, University of Texas Medical Branch (UTMB), Galveston, Texas, United States of America
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Hani Serag
MD, MPH, The University of Texas Medical Branch (UTMB), 301 University Blvd., Galveston, Texas 77555-0920,
United States of America
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Article ID: 100009Z19MK2020
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Khan M, Beach P, Hussein S, Jabr M, Halazun J, Serag H. Rickets secondary to cystinosis-induced renal Fanconi syndrome: A case report. J Case Rep Images Pediatr 2020;2:100009Z19MK2020.ABSTRACT
Introduction: Fanconi syndrome consists of proximal tubular dysfunction, causing generalized renal wasting that results in loss of nutrients. In the pediatric population it commonly presents with polyuria, polydipsia, and growth failure due to rickets. Rickets is inadequate bone mineralization at the growth plate, which can be due to a deficiency in either calcium, phosphate, or vitamin D.
Case Report: A 17-month-old male from Anbar, Iraq presented to Jordan Hospital in Amman, Jordan for an opinion regarding diagnosis and management of rickets secondary to nephropathic cystinosis (NC). Prior to evaluation at Jordan Hospital, the patient underwent extensive evaluation and treatment in Iraq starting at age of 12 months. Rickets was an incidental finding on radiographs obtained at that time in an evaluation of fever, and the resulting evaluation spanned five months due to challenges encountered in a low-resource setting. Initiation of appropriate treatment has improved his overall health.
Conclusion: The most common cause of rickets, particularly in societies impacted by war and social unrest, is nutritional. This case highlights the importance of considering other etiologies. We discuss the common clinical features of Fanconi syndrome secondary to NC, while also highlighting the many obstacles faced by the patient in receiving an accurate diagnosis, which is essential to the provision of appropriate interventions.
Keywords: Global health, Nephropathic cystinosis, Pediatrics, Rickets
SUPPORTING INFORMATION
Acknowledgments
We would like to acknowledge and thank Dr. Issa Al Khtataba, senior consultant and pediatric nephrologist at Jordan Hospital in Amman, Jordan.
Author ContributionsMaryam Khan - Conception of the work, Design of the work, Acquisition of data, Analysis of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Patricia Beach - Conception of the work, Design of the work, Acquisition of data, Analysis of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Sarah Hussein - Conception of the work, Design of the work, Acquisition of data, Analysis of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Mariam Jabr - Conception of the work, Design of the work, Acquisition of data, Analysis of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Jarir Halazun - Conception of the work, Design of the work, Acquisition of data, Analysis of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Hani Serag - Conception of the work, Design of the work, Acquisition of data, Analysis of data, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2020 Maryam Khan et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
