Kelley-Seegmiller Syndrome: Urolithiasis, Renal Uric Acid Deposits, and Gout: What is the Role of the Urologist?
Kelley-Seegmiller syndrome (KSS) is a disorder that occurs when there is a partial deficiency of the enzyme hypoxanthine guanine phosphoribosyl transferase. It is involved in the metabolism of purines, clinically manifesting as hyperuricemia, hyperuricosuria, gout arthritis, and urolithiasis. The ai...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2019
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/23441
- Acceso en línea:
- https://doi.org/10.1159/000494360
https://repository.urosario.edu.co/handle/10336/23441
- Palabra clave:
- Febuxostat
Adult
Article
Case report
Chronic kidney failure
Clinical article
Clinical feature
Conservative treatment
Drug effect
Gout
Human
Hyperuricemia
Hyperuricosuria
Kelley seegmiller syndrome
Kidney colic
Liquid chromatography
Male
Metatarsophalangeal joint
Priority journal
Urolithiasis
Urologist
X chromosome linked disorder
Hprt1 deficiency, partial
Kelley- seegmiller syndrome
Urolithiasis
partial
Hypoxanthine guanine phosphoribosyltransferase 1 deficiency
- Rights
- License
- Abierto (Texto Completo)