Title |
Fainting Fanconi syndrome clarified by proxy: a case report
|
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Published in |
BMC Nephrology, July 2017
|
DOI | 10.1186/s12882-017-0649-8 |
Pubmed ID | |
Authors |
Stephen Benedict Walsh, Robert Unwin, Robert Kleta, William van’t Hoff, Paul Bass, Khalid Hussain, Sian Ellard, Detlef Bockenhauer |
Abstract |
Rare diseases may elude diagnosis due to unfamiliarity of the treating physicians with the specific disorder. Yet, advances in genetics have tremendously enhanced our ability to establish specific and sometimes surprising diagnoses. We report a case of renal Fanconi syndrome associated with intermittent hypoglycemic episodes, the specific cause for which remained elusive for over 30 years, despite numerous investigations, including three kidney and one liver biopsy. The most recent kidney biopsy showed dysmorphic mitochondria, suggesting a mitochondrial disorder. When her son presented with hypoglycemia in the neonatal period, he underwent routine genetic testing for hyperinsulinemic hypoglycemia, which revealed a specific mutation in HNF4A. Subsequent testing of the mother confirmed the diagnosis also in her. Modern sequencing technologies that test multiple genes simultaneously enable specific diagnoses, even if the underlying disorder was not clinically suspected. The finding of mitochondrial dysmorphology provides a potential clue for the mechanism, by which the identified mutation causes renal Fanconi syndrome. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Canada | 1 | 13% |
United Kingdom | 1 | 13% |
Venezuela, Bolivarian Republic of | 1 | 13% |
India | 1 | 13% |
Unknown | 4 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 6 | 75% |
Practitioners (doctors, other healthcare professionals) | 2 | 25% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 29 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 8 | 28% |
Student > Bachelor | 3 | 10% |
Researcher | 3 | 10% |
Student > Ph. D. Student | 3 | 10% |
Other | 2 | 7% |
Other | 4 | 14% |
Unknown | 6 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 13 | 45% |
Biochemistry, Genetics and Molecular Biology | 2 | 7% |
Psychology | 2 | 7% |
Business, Management and Accounting | 1 | 3% |
Nursing and Health Professions | 1 | 3% |
Other | 4 | 14% |
Unknown | 6 | 21% |