Morbid obesity in an adolescent with Prader-Willi syndrome

Santos, Vitorino Modesto dos; Paula, Fernando Henrique de; Osterne, Ernesto Misael Cintra; Nery, Natalia Solón; Turra, Thiago Zavascki

doi:10.4067/s0034-98872009000200012

Cited by 6 publications

(5 citation statements)

References 15 publications

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“…The clinical characteristics of this syndrome reported in the literature, such as: neonatal hypotonia, difficulties in feeding, lethargy weak cry, hyporeflexia, hyperphagia, and obesity [7,11,15], were confirmed by the patient's mother during anamnesis. Short stature, small hands and feet, skin/hair/retina hypopigmentation, thin lips, labial commissures facing down, myopia, and strabismus also described in prior studies were also observed [4,13,14].…”

Section: Discussionsupporting

confidence: 55%

Prader-Willi Syndrome: clinical case report

Gadens¹,

Kowalski²,

Begnini2³

et al. 2015

RSBO

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Prader-Willi syndrome (PWS) is a neurobehavioral genetic disease whose cause is failure on chromosome 15. It is considered the primary genetic cause of obesity, since it is characterized by hyperphagia. Although the scientific literature will produce articles on Prader-Willi syndrome, few reported oral conditions of these patients. Objective: This study aimed to describe the oral health status of a patient diagnosed with PWS. Case report:A boy aged 10 years-old, leucoderma, attended the Discipline of Dentistry for Special Care Patients, Pontifical Catholic University of Paraná (PUCPR), with all the inherent PWS characteristics such as hyperphagia and obesity. Clinical, radiographic and laboratory tests were performed to verify the oral health conditions which showed the presence of biofilm accumulation, gingivitis and a high DMFT index. It was necessary to adequate oral environment through extractions, restorations, and prophylactic therapy. Conclusion: Considering the information obtained, it was concluded that the motivation to maintain oral health should be constant for this patient and involve family, since hyperphagia, which is a determinant for obesity, decisively contributes to the evolution of oral diseases.

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Section: Discussionsupporting

confidence: 55%

Prader-Willi Syndrome: clinical case report

Gadens¹,

Kowalski²,

Begnini2³

et al. 2015

RSBO

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“…One article described a patient with stage 3 CKD (75). Five cases were found describing acute kidney injury (76-80) due to several different causes: pneumoperitoneum with abdominal compartment syndrome (76), secondary rhabdomyolysis caused by hyperpyrexia (77), nephrotoxic medication (78), hyperosmolar hyperglycemic state (79) and respiratory failure due to obesity hypoventilation syndrome (80). We found two case reports describing adults with PWS who needed hemodialysis due to end stage kidney disease, one patient from intrinsic nephrotic disease, the other case from uncontrolled diabetes mellitus (81,82).…”

Section: Systematic Literature Reviewmentioning

confidence: 99%

Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review

et al. 2023

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BackgroundPrader-Willi syndrome (PWS) is a rare, complex, genetic disorder characterized by hyperphagia, hypotonia, delayed psychomotor development, low muscle mass and hypothalamic dysfunction. Adults with PWS often have obesity, hypertension and type 2 diabetes mellitus (DM2), known risk factors for cardiovascular disease (CVD) and chronic kidney disease (CKD). Early symptoms of CVD and CKD may be masked by intellectual disability and inability to express physical complaints. Furthermore, kidney diseases are often asymptomatic. Therefore, renal and cardiovascular disease might be missed in patients with PWS. Microalbuminuria is an early sign of microvascular damage in the kidneys and other vascular beds. Therefore, we screened our adult PWS cohort for the presence of elevated urinary albumin and (micro)albuminuria.MethodsWe retrospectively collected anthropometric measurements, blood pressure, medical history, medication use, urine dipstick and biochemical measurements form electronic patient files. In addition, we performed a systematic literature review on kidney disease in PWS.ResultsWe included 162 adults with genetically confirmed PWS (56% male, median age 28 years), of whom 44 (27%) had DM2. None had known CVD. All subjects had normal estimated glomerular filtration rate (eGFR) according to non-PWS reference intervals. Elevated urinary albumin or (micro)albuminuria was present in 28 (18%); 19 out of 75 (25%) had an increased urinary albumin-to-creatinine ratio (UACR) and 10 out of 57 (18%) had an increased urinary protein-to-creatinine ratio. Elevated urinary albumin was present at a young age (median age 26 (IQR 24-32) years) and was associated with an significantly higher BMI and LDL-cholesterol levels and higher prevalence of DM2, hypertension and dyslipidemia than those with normal UACR (p=0.027, p=0.019, p<0.001, p<0.001, p=0.011 and respectively).ConclusionUpon screening, one in every five adults with PWS had increased urinary albumin or (micro)albuminuria, early signs of microvascular disease. All had normal eGFR, according to non-PWS reference intervals, and none had a formal diagnosis of CVD. As muscle mass is low in PWS, creatinine levels and eGFR may be spuriously normal. Urinalysis in this patient group can be used as a screening tool for microvascular (kidney) disease. We propose an algorithm for the detection and management of microvascular disease in adults with PWS.

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“…Expectedly, sUA was associated with metabolic health and, in PWS, triglycerides emerged as a metabolic predictor of sUA at the multivariable regression analysis. Literature pertaining to sUA regulation in PWS is poor and restricted to case reports [35,36] and a preliminary study in obese adults with PWS, where sUA level was lower than control subjects with obesity [20]. In the general population, metabolic health and, particularly, triglycerides are recognized to play a modulatory role on sUA in relation to the cardiovascular risk [37][38][39].…”

Section: Discussionmentioning

confidence: 99%

Fat-Free Mass Is Better Related to Serum Uric Acid Than Metabolic Homeostasis in Prader-Willi Syndrome

et al. 2020

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Background: Prader-Willi syndrome (PWS) is conventionally regarded as a model of genetic obesity carrying a metabolically healthier profile and fat compartmentalization than subjects with non-syndromic obesity. Serum uric acid (sUA) is a recognized surrogate marker of metabolic derangement. As no information is currently available on sUA levels in adults with PWS, we aimed to analyze sUA in a large cohort of adult patients with PWS in comparison to a control counterpart; secondly, we aimed to investigate the metabolic and non-metabolic determinants of sUA in PWS. Methods: A cross-sectional study was conducted on 89 consecutive adult patients with genetically confirmed PWS spanning a wide BMI range (17.2–56.7 kg/m2). As controls, 180 age-, sex- and BMI-matched healthy controls were included. sUA levels were analyzed in relation to the PWS status, metabolic variables, hormone status, body composition, and resting energy expenditure (REE). Bivariate correlation and multivariable regression studies were used to test for predictors of sUA in PWS. Results: Despite having similar BMI values, patients with PWS presented with higher FM (p < 0.0001), lower FFM (p < 0.0001) and REE values than controls (p < 0.0001). In PWS, sUA levels were non-significantly different between subjects with and without obesity (5.4 ± 1.3 vs. 4.9 ± 1.1 mg/dL, p = 0.09), and did not vary significantly in relation to genotype, sex steroid or GH replacement, as well as psychiatric treatments. Rates of hyperuricaemia (19.1% vs. 33.7%, p < 0.01) and absolute sUA levels were lower in patients with PWS compared to controls owing to significant differences between subgroups with obesity (5.5 ± 1.4 vs. 6.6 ± 1.6 mg/dL, p < 0.0001). In merged populations, sUA increased in parallel with age, BMI, FM, FFM, REE, glucolipid homeostasis, and inflammatory markers. In a separate analysis in PWS, however, sUA correlations with BMI, FM, and inflammatory markers were null. Stepwise multivariable regression analysis in the PWS group adjusted for karyotype, age, sex, FM, FFM, obesity, triglycerides, and HDL cholesterol, showed that sUA levels were independently associated with FFM (β = 0.35, p < 0.0001) and, albeit less significantly, with triglycerides (β = 0.23, p < 0.05). The introduction of height-normalized FFM (FFM index) in the regression model, however, abrogated the predictive role of FFM on sUA. Conclusions: FFM mass is a strong predictor of sUA. PWS is associated to lower sUA levels than controls likely due to genetic predisposition to different body composition and healthier metabolic phenotype. Further studies are warranted to assess purine metabolism and the clinical significance of the FFM index in PWS.

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Morbid obesity in an adolescent with Prader-Willi syndrome

Abstract: Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15q11-q13)

Cited by 6 publications

References 15 publications

Prader-Willi Syndrome: clinical case report

Prader-Willi Syndrome: clinical case report

Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review

Fat-Free Mass Is Better Related to Serum Uric Acid Than Metabolic Homeostasis in Prader-Willi Syndrome

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