Hyperlipidemia, insulin-dependent diabetes mellitus, and rapidly progressive diabetic retinopathy and nephropathy in Prader-Willi syndrome with del(15)(q11.2q13)

Bassali, Reda; Hoffman, William H.; Chen, Harold; Tuck‐Muller, Cathy M.

doi:10.1002/(sici)1096-8628(19970822)71:3<267::aid-ajmg3>3.0.co;2-r

Cited by 20 publications

(6 citation statements)

References 33 publications

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“…Several risk factors of microvascular complications have been reported in adults with T2DM, such as duration of diabetes, age, blood pressure, fasting plasma glucose, urinary albumin excretion levels, and elevated C-Reactive Protein levels [ 45 – 47 ]. However, it is difficult to compare our results because there have been few reports of complications related to T2DM in PWS [ 48 ]. The disease’s rarity has meant that little research has been conducted despite the high prevalence of T2DM in PWS.…”

Section: Discussionmentioning

confidence: 99%

Prevalence and risk factors for type 2 diabetes mellitus with Prader–Willi syndrome: a single center experience

Yang

Kim

Cho

et al. 2017

Orphanet J Rare Dis

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BackgroundPrader–Willi syndrome (PWS) is often related to severe obesity and type-2 diabetes mellitus (T2DM). However, few studies, and none in Korea, have examined prevalence of T2DM and other variables in PWS. The aim of this study was to identify the prevalence and associated risk factors for T2DM in Korean patients with PWS.MethodsWe performed a retrospective cohort study of the 84 PWS patients aged 10 or over (10.3–35.8 years of age) diagnosed with PWS at Samsung Medical Center from 1994 to 2016. We estimated occurrence of T2DM according to age (10–18 years versus >18 years), body mass index (BMI), genotype, history of growth hormone therapy, homeostasis model of assessment-insulin resistance (HOMA-IR), and the presence of dyslipidemia, hypogonadism, or central precocious puberty. Additionally, we investigated cutoff values of risk factors for development of T2DM.ResultsTwenty-nine of a total 211 patients, diagnosed with PWS over the study period, were diagnosed as having T2DM (13.7%, mean age 15.9 ± 3.6 years). In the >18 years group, obesity, HOMA-IR, and presence of dyslipidemia, hypogonadism, or central precocious puberty were associated with the occurrence of T2DM in univariate analysis. In multivariate logistic regression analysis, only obesity (p = 0.001) and HOMA-IR (p < 0.001) were significant predictive factors for T2DM. Based on the receiver operating a characteristic curve analysis, the cutoff values of HOMA-IR and BMI for predicting T2DM were >2.7 and >28.49 kg/m2, respectively. Of the 29 patients, seven had ≥1 microvascular complication, with non-proliferative diabetic retinopathy in 6 of 7 cases. Advanced age and HOMA-IR were positively correlated with diabetic microvascular complications (p < 0.05, Spearman correlation coefficient 0.393 and 0.434, respectively).ConclusionsThe prevalence of diabetes in Korean PWS was similar to that in previous results. BMI and HOMA-IR were strong predictive factors for the development of T2DM in PWS. We specifically suggest the regular monitoring of glucose homeostasis parameters through a detailed settlement of ethnically specific cutoff values for BMI and HOMA-IR in PWS to prevent progression of T2DM and diabetic microvascular complications.Electronic supplementary materialThe online version of this article (10.1186/s13023-017-0702-5) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Prevalence and risk factors for type 2 diabetes mellitus with Prader–Willi syndrome: a single center experience

Yang

Kim

Cho

et al. 2017

Orphanet J Rare Dis

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“…There have so far been few reports of diabetes-related complications in PWS (16). The current results showed that there were no progressive complications, such as renal failure and proliferative retinopathy.…”

Section: Discussionmentioning

confidence: 99%

Characterization of Diabetes Mellitus in Japanese Prader-Willi Syndrome

Tsuchiya

Oto

Ayabe

et al. 2011

Clin Pediatr Endocrinol

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Prader-Willi syndrome (PWS) is frequently associated with marked obesity and diabetes mellitus (DM). Although the overall frequency of DM in PWS ranges from 7–20%, there is only limited data available on Japanese patients. This study evaluated five factors associated with DM in PWS: 1) frequency, 2) age of onset, 3) risk factors, 4) long-term complications and 5) treatment. Sixty-five patients, ranging in age from 10 to 53 yr, were studied retrospectively. The frequency of DM in patients over 10 yr of age was 26.2% (17/65 patients). The age of DM onset ranged from 10 to 29 yr with a median age of 15 yr. The body mass index (BMI) was significantly higher in the DM group in comparison with the non-DM group. The number of patients using growth hormone (GH) in the DM group was significantly lower than the number that did not. Proteinuria (urinary excretion of albumin/creatinine at spot collection: U-Alb/Cr ≥300 mg/gCr) was observed in 1/17 patients (5.9%), microalbuminuria (U-Alb/Cr 30–300 mg/gCr) was observed in 4/17 patients (23.5%) and nonproliferative retinopathy was observed in 2/17 patients (11.8%). Among oral hypoglycemic agents, alpha-glucosidase inhibitors (α-GI) were most often used in our patients (10/17, 58.8%). Eleven out of 17 patients (64.7%) had been treated with insulin.

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“…In PWS, the combination of high BMI with high rates of dyslipidaemia and hypertension could lead to elevated albumin excretion. In 1997, rapidly progressive diabetic retinopathy and nephropathy were described in a white man with PWS [ 39 ] . The reason for the lower rate of retinopathy in our PWS population might be explained by the low number of patients tested for retinopathy (only 5 out of 23), or low sensitivity of ophthalmoscopy when performed by inexperienced ophthalmologists.…”

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confidence: 99%