Fainting Fanconi syndrome clarified by proxy: a case report
Abstract Background 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. Case presentation We report a case of renal Fan...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2017-07-01
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| Series: | BMC Nephrology |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12882-017-0649-8 |
| _version_ | 1818578031168454656 |
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| author | Stephen Benedict Walsh Robert Unwin Robert Kleta William van’t Hoff Paul Bass Khalid Hussain Sian Ellard Detlef Bockenhauer |
| author_facet | Stephen Benedict Walsh Robert Unwin Robert Kleta William van’t Hoff Paul Bass Khalid Hussain Sian Ellard Detlef Bockenhauer |
| author_sort | Stephen Benedict Walsh |
| collection | DOAJ |
| description | Abstract Background 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. Case presentation 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. Conclusion 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. |
| first_indexed | 2024-12-16T06:39:20Z |
| format | Article |
| id | doaj.art-73d980993e374ef2b0bbb86a8c90f66d |
| institution | Directory Open Access Journal |
| issn | 1471-2369 |
| language | English |
| last_indexed | 2024-12-16T06:39:20Z |
| publishDate | 2017-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Nephrology |
| spelling | doaj.art-73d980993e374ef2b0bbb86a8c90f66d2022-12-21T22:40:44ZengBMCBMC Nephrology1471-23692017-07-011811410.1186/s12882-017-0649-8Fainting Fanconi syndrome clarified by proxy: a case reportStephen Benedict Walsh0Robert Unwin1Robert Kleta2William van’t Hoff3Paul Bass4Khalid Hussain5Sian Ellard6Detlef Bockenhauer7UCL Centre for Nephrology, Renal Unit, Great Ormond Street Hospital for Children NHS Foundation TrustUCL Centre for Nephrology, Renal Unit, Great Ormond Street Hospital for Children NHS Foundation TrustGreat Ormond Street Hospital for Children NHS Foundation TrustGreat Ormond Street Hospital for Children NHS Foundation TrustUCL Centre for Nephrology, Renal Unit, Great Ormond Street Hospital for Children NHS Foundation TrustSidra Medical CentreUniversity of Exeter Medical School, Institute of Biomedical and Clinical ScienceGreat Ormond Street Hospital for Children NHS Foundation TrustAbstract Background 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. Case presentation 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. Conclusion 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.http://link.springer.com/article/10.1186/s12882-017-0649-8Renal Fanconi syndromeHyperinsulinismHypoglycaemiaHNF4AMitochondrial cytopathyGenetic testing |
| spellingShingle | Stephen Benedict Walsh Robert Unwin Robert Kleta William van’t Hoff Paul Bass Khalid Hussain Sian Ellard Detlef Bockenhauer Fainting Fanconi syndrome clarified by proxy: a case report BMC Nephrology Renal Fanconi syndrome Hyperinsulinism Hypoglycaemia HNF4A Mitochondrial cytopathy Genetic testing |
| title | Fainting Fanconi syndrome clarified by proxy: a case report |
| title_full | Fainting Fanconi syndrome clarified by proxy: a case report |
| title_fullStr | Fainting Fanconi syndrome clarified by proxy: a case report |
| title_full_unstemmed | Fainting Fanconi syndrome clarified by proxy: a case report |
| title_short | Fainting Fanconi syndrome clarified by proxy: a case report |
| title_sort | fainting fanconi syndrome clarified by proxy a case report |
| topic | Renal Fanconi syndrome Hyperinsulinism Hypoglycaemia HNF4A Mitochondrial cytopathy Genetic testing |
| url | http://link.springer.com/article/10.1186/s12882-017-0649-8 |
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