Hyperuricemia and gout in Down's syndrome

Okabe, H; Mizuguchi, Masato; Hosoya, Tatsuo; Yamaguchi, Yoshihiro; Saikawa, Hajime; Kimura, Hiroaki; Uetake, Daijiro; Hikita, Miho; Gomi, Hideho; Ichida, Kimiyoshi; Ohno, Iwao

doi:10.6032/gnam1999.28.1_19

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“…These results suggest that adults with DS should be considered as having variable comorbidities, especially obesity, hyperlipidemia, hyperuricemia, and thyroid disease. It is unclear whether DS predisposes to hyperuricemia, and Japanese studies report no consistent findings on the relationship between obesity and uric acid levels in DS 16,26 . Hypotheses to explain hyperuricemia in DS include increased dietary purines 27 , the influence of sex hormones, the growing and aging process 28 , and alterations in oxidative stress pathways 29,30 .…”

Section: Discussionmentioning

confidence: 99%

Medical Needs of Adults with Down Syndrome Presenting at a Regional Medical and Rehabilitation Center in Japan

et al. 2023

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Background Down syndrome (DS) is the most frequent chromosomal condition; however, knowledge about associated health issues in adulthood is inadequate. We aimed to obtain health information from Japanese adults with DS. MethodsWe conducted a retrospective chart review of 151 patients with DS who visited the Internal Medicine Outpatient Department of the Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled. ResultsEndocrine disorders, such as obesity, hyperlipidemia, and hyperuricemia, were most common in both adulthood (≤ 40 years) and senescence (> 40 years), whereas neurological diseases were more prevalent in senescence. Even patients with DS in their 20s or younger had multimorbidity that increased with age. Only 21 patients (13.9%) with DS visited our hospital with referral letters from pediatricians; 94 patients (62.3%) visited without referral letters from other medical institutions. Patients without a referral letter had a mean of 3.1 comorbidities per patient.Moreover, medical care for people with DS was interrupted during childhood in some cases.Conclusions From our results, to prevent and detect comorbidities in patients with DS, there is need for continuous medical care from childhood to adulthood. Recently, individuals with DS have been diagnosed using chromosome testing and genetic counseling. Clinical geneticists and genetic counselors can support patients with DS and their caregivers in achieving appropriate health care and well-being on their own by seamlessly engaging them throughout childhood and adulthood.

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