Abderhalden–Kaufmann–Lignac syndrome
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| Abderhalden–Kaufmann–Lignac syndrome | |
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| Other names: Abderhalden–Lignac–Kaufmann disease[1] | |
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| Abderhalden–Kaufmann–Lignac syndrome has an autosomal recessive pattern of inheritance. | |
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Abderhalden–Kaufmann–Lignac syndrome (AKL syndrome), also called nephropathic cystinosis[2], is an autosomal recessive renal disorder of childhood comprising cystinosis and renal rickets
Affected children are developmentally delayed with dwarfism, rickets and osteoporosis. Renal tubular disease is usually present causing aminoaciduria, glycosuria and hypokalemia.
Cysteine deposition is most evident in the conjunctiva and cornea.
It is named for Emil Abderhalden, Eduard Kaufmann and George Lignac.[3][4]
See also
References
- ↑ "Abderhalden Kaufmann Lignac syndrome". rarediseases.info.nih.gov. Archived from the original on 15 May 2018. Retrieved 15 May 2018.
- ↑ "Nephropathic cystinosis (Concept Id: C2931187) - MedGen - NCBI". nih. Archived from the original on 30 September 2023. Retrieved 31 January 2024.
- ↑ B.G. Firkin & J.A.Whitworth (1987). Dictionary of Medical Eponyms. Parthenon Publishing. ISBN 1-85070-333-7
- ↑ "Who Named It?". Archived from the original on 2019-03-01. Retrieved 2023-07-29.
- ↑ Bäumner, Sören; Weber, Lutz T. (2018). "Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease". Frontiers in Pediatrics. 6. doi:10.3389/fped.2018.00058/full. ISSN 2296-2360.
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