Is There a Need to "Modernize" and "Simplify" the Diagnostic Criteria of Protein-Energy Wasting?

Protein energy wasting(PEW) is a term that most nephrologists used to define nutritional disorders in patients with acute kidney injury and chronic kidney disease. Although this nomenclature is well implemented in the field of nephrology, the use of other terms such as cachexia or malnutritionin the majority of chronic diseases can induce confusion regarding the definition and interpretation of these terms. There is ample evidence in the literature that the pathways involved in cachexia/malnutrition and PEW are common. However, in kidney diseases, there are pathophysiological conditions such as accumulation of uremic toxins, and the use of dialysis, which may induce a phenotypic specificity justifying the original term PEW. In light of the latest epidemiologic studies, the criteria for PEW used in 2008 probably need to be updated. The objective of this review is to summarize the main mechanisms involved in cachexia/malnutrition and PEW. We discuss the need to modernize and simplify the current definition and diagnostic criteria of PEW. We consider the interest of proposing a specific nomenclature of PEW for children and elderly patients with kidney diseases.

Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia.

X-linked hypophosphataemia (XLH) is the most frequent cause of hypophosphataemia-associated rickets of genetic origin and is associated with high levels of the phosphaturic hormone fibroblast growth factor 23 (FGF23). In addition to rickets and osteomalacia, patients with XLH have a heavy disease burden with enthesopathies, osteoarthritis, pseudofractures and dental complications, all of which contribute to reduced quality of life. This Consensus Statement presents the outcomes of a working group of the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases, and provides robust clinical evidence on management in XLH, with an emphasis on patients' experiences and needs. During growth, conventional treatment with phosphate supplements and active vitamin D metabolites (such as calcitriol) improves growth, ameliorates leg deformities and dental manifestations, and reduces pain. The continuation of conventional treatment in symptom-free adults is still debated. A novel therapeutic approach is the monoclonal anti-FGF23 antibody burosumab. Although promising, further studies are required to clarify its long-term efficacy, particularly in adults. Given the diversity of symptoms and complications, an interdisciplinary approach to management is of paramount importance. The focus of treatment should be not only on the physical manifestations and challenges associated with XLH and other FGF23-mediated hypophosphataemia syndromes, but also on the major psychological and social impact of the disease.

Concurrent central diabetes insipidus and cerebral salt wasting disease in a post-operative case of craniopharyngioma: a case report.

BACKGROUND: Water and electrolyte disorders commonly encountered in children post-surgery involving hypothalamus and posterior pituitary, are central diabetes insipidus, syndrome of inappropriate secretion of anti-diuretic hormone and cerebral salt wasting disease. Delayed diagnosis and inadequate management of such cases may lead to worsened neurological outcomes with a high mortality rate. CASE PRESENTATION: Here we report the case of a 7-year-old girl who underwent surgical resection of a craniopharyngioma, following which she initially developed central diabetes insipidus. However, later on in the course of her illness she developed symptomatic hyponatremia with natriuresis which was diagnosed to be due to cerebral salt wasting disease. This combination of central diabetes insipidus and cerebral salt wasting syndrome is a rare occurrence and poses a diagnostic challenge. Diagnosis and management can be even more difficult when these conditions precede or coexist with each other. CONCLUSION: In such cases development of hyponatremia should always prompt consideration of unusual causes like cerebral salt wasting disease in addition to the classically described syndrome of inappropriate secretion of anti-diuretic hormone. Hence, a thorough knowledge of these disorders along with intensive monitoring of fluid and sodium status is critical for timely diagnosis and management of these patients.

Impact of frailty and its inter-relationship with lean tissue wasting and malnutrition on kidney transplant waitlist candidacy and delisting.

BACKGROUND & AIMS: Frailty and body composition contribute to adverse pre-transplant outcomes including hospitalization and waitlist mortality, but the interaction between frailty and body composition remains uncertain. METHODS: Frailty was diagnosed by Clinical Frailty Scale (CFS) and a standard Frailty Questionnaire (FQ). Nutrition was evaluated by serum albumin level, subjective global assessment (SGA) and comprehensive malnutrition-inflammation score (MIS). Body composition was assessed by bioimpedance spectroscopy. All patients were followed up for three years. Primary outcome measure was a composite of death and permanent removal from waitlist. Secondary outcomes were emergency room attendance and hospitalization. RESULTS: 432 prevalent peritoneal dialysis (PD) patients were recruited. 148 (34.3%) were listed on transplant waitlist. Frailty, age and comorbidity load predicted waitlisting. With time, 47 patients were delisted. Frailty by FQ (p = 0.028), serum albumin level (p = 0.005) and waist circumference (p = 0.010) predicted delisting after adjustment for confounders. Frailty significantly interacted with lean tissue wasting (FQ: p = 0.002, CFS: p = 0.048), and MIS (FQ: p = 0.004; CFS: p = 0.014) on delisting. Lean tissue wasting caused 2.56 times risk of delisting among frail individuals identified by FQ (p = 0.016), while serum albumin and the presence of diabetes mellitus predicted the risk of delisting among non-frail individuals. Lean tissue wasted and frail subjects had a higher all-cause and infection-related hospitalization. CONCLUSION: Frailty predicted both kidney transplant waitlisting and subsequent delisting. Frailty interacted with body composition on transplant waitlist delisting. Lean tissue wasting and malnutrition independently predicted delisting in frail and non-frail listed subjects respectively.

Age patterns in overweight and wasting prevalence of under 5-year-old children from low- and middle-income countries.

OBJECTIVES: To describe how overweight and wasting prevalence varies with age among children under 5 years in low- and middle-income countries (LMICs). METHODS: We used data from nationally representative Demographic and Health Surveys and Multiple Indicator Cluster Surveys. Overweight and wasting prevalence were defined as the proportions of children presenting mean weight for length/height (WHZ) more than 2 standard deviations above or below 2 standard deviations from the median value of the 2006 WHO standards, respectively. Descriptive analyses include national estimates of child overweight and wasting prevalence, mean, and standard deviations of WHZ stratified by age in years. National results were pooled using the population of children aged under 5 years in each country as weight. Fractional polynomials were used to compare mean WHZ with both overweight and wasting prevalence. RESULTS: Ninety national surveys from LMICs carried out between 2010 and 2019 were included. The overall prevalence of overweight declined with age from 6.3% for infants (aged 0-11 months) to 3.0% in 4 years olds (p = 0.03). In all age groups, lower prevalence was observed in low-income compared to upper-middle-income countries. Wasting was also more frequent among infants, with a slight decrease between the first and second year of life, and little variation thereafter. Lower-middle-income countries showed the highest wasting prevalence in all age groups. On the other hand, mean WHZ was stable over the first 5 years of life, but the median standard deviation for WHZ decreased from 1.39 in infants to 1.09 in 4-year-old children (p < 0.001). For any given value of WHZ, both overweight and wasting prevalence were higher in infants than in older children. CONCLUSION: The higher values of WHZ standard deviations in infants suggest that declining prevalence in overweight and wasting by age may be possibly due to measurement error or rapid crossing of growth channels by infants.

The Clinical Value of Nutritional Care before and during Active Cancer Treatment.

Malnutrition and muscle wasting are frequently reported in cancer patients, either linked to the tumor itself or caused by oncologic therapies. Understanding the value of nutritional care during cancer treatment remains crucial. In fact, cancer-associated sarcopenia plays a key role in determining higher rates of morbidity, mortality, treatment-induced toxicities, prolonged hospitalizations and reduced adherence to anticancer treatment, worsening quality of life and survival. Planning baseline screening to intercept nutritional troubles earlier, organizing timely reassessments, and providing adequate counselling and dietary support, healthcare professional may positively interfere with this process and improve patients' overall outcomes during the whole disease course. Several screening tools have been proposed for this purpose. Nutritional Risk Screening (NRS), Mini Nutritional Assessment (MNA), Patient Generated Subjective Global Assessment (PG-SGA) are the most common studied. Interestingly, second-level tools including skeletal muscle index (SMI) and bioelectric impedance analysis (BIA) provide a more precise assessment of body composition, even if they are more complex. However, nutritional assessment is not currently used in clinical practice and procedures must be standardized in order to improve the efficacy of standard chemotherapy, targeted agents or even checkpoint inhibitors that is potentially linked with the patients' nutritional status. In the present review, we will discuss about malnutrition and the importance of an early nutritional assessment during chemotherapy and treatment with novel checkpoint inhibitors, in order to prevent treatment-induced toxicities and to improve survival outcomes.

Fibroblast growth factor 21 and protein energy wasting in hemodialysis patients.

INTRODUCTION: Protein energy wasting (PEW) is the most important risk factor for morbidity and mortality in hemodialysis patients. Inadequate dietary protein intake is a frequent cause of PEW. Recent studies have identified fibroblast growth factor 21 (FGF21) as an endocrine protein sensor. This study aims to investigate the potential of FGF21 as a biomarker for protein intake and PEW and to investigate intradialytic FGF21 changes. METHODS: Plasma FGF21 was measured using an enzyme-linked immunoassay. Complete intradialytic dialysate and interdialytic urinary collections were used to calculate 24-h urea excretion and protein intake. Muscle mass was assessed using the creatinine excretion rate and fatigue was assessed using the Short Form 36 and the Checklist Individual Strength. RESULTS: Out of 59 hemodialysis patients (65 ± 15 years, 63% male), 39 patients had a low protein intake, defined as a protein intake less than 0.9 g/kg/24-h. Patients with a low protein intake had nearly twofold higher plasma FGF21 compared to those with an adequate protein intake (FGF21 1370 [795-4034] pg/mL versus 709 [405-1077] pg/mL;P < 0.001). Higher plasma FGF21 was associated with higher odds of low protein intake (Odds Ratio: 3.18 [1.62-7.95] per doubling of FGF21; P = 0.004), independent of potential confounders. Higher plasma FGF21 was also associated with lower muscle mass (std ß: -0.34 [-0.59;-0.09];P = 0.009), lower vitality (std ß: -0.30 [-0.55;-0.05];P = 0.02), and more fatigue (std ß: 0.32 [0.07;0.57];P = 0.01). During hemodialysis plasma FGF21 increased by 354 [71-570] pg/mL, corresponding to a 29% increase. CONCLUSION: Higher plasma FGF21 is associated with higher odds of low protein intake in hemodialysis patients. Secondarily, plasma FGF21 is also associated with lower muscle mass, less vitality, and more fatigue. Lastly, there is an intradialytic increase in plasma FGF21. FGF21 could be a valuable marker allowing for objective assessment of PEW.

Differentiating syndrome of inappropriate ADH, reset osmostat, cerebral/renal salt wasting using fractional urate excretion.

OBJECTIVES: Clinical and laboratory data of reset osmostat (RO) and cerebral/renal salt wasting (C/RSW) mimic syndrome of inappropriate antidiuretic hormone (SIADH) and can pose diagnostic challenges because of significant overlapping between clinical and laboratory findings. Failure to correctly diagnose hyponatremia may result in increased mortality risk, longer hospital stay, and is cost-effective. We aim to illustrate clinical and laboratory similarities and difference among patients with hyponatremic disorders and discuss the diagnostic value of factional uprate excretion (FEurate) to differentiate SIADH from RO and C/RSW. CASE PRESENTATIONS: We report the use of FEurate in the evaluation of three patients with hyponatremia and elevated urine osmolality in the absence of edema or clinical evidence of dehydration to differentiate SIADH from RO and C/RSW. CONCLUSIONS: Measurement of FEurate may offset in part the diagnostic confusion imparted by the diagnoses of SIADH, RO, and C/RSW.

Myostatin as a Biomarker of Muscle Wasting and other Pathologies-State of the Art and Knowledge Gaps.

Sarcopenia is a geriatric syndrome with a significant impact on older patients' quality of life, morbidity and mortality. Despite the new available criteria, its early diagnosis remains difficult, highlighting the necessity of looking for a valid muscle wasting biomarker. Myostatin, a muscle mass negative regulator, is one of the potential candidates. The aim of this work is to point out various factors affecting the potential of myostatin as a biomarker of muscle wasting. Based on the literature review, we can say that recent studies produced conflicting results and revealed a number of potential confounding factors influencing their use in sarcopenia diagnosing. These factors include physiological variables (such as age, sex and physical activity) as well as a variety of disorders (including heart failure, metabolic syndrome, kidney failure and inflammatory diseases) and differences in laboratory measurement methodology. Our conclusion is that although myostatin alone might not prove to be a feasible biomarker, it could become an important part of a recently proposed panel of muscle wasting biomarkers. However, a thorough understanding of the interrelationship of these markers, as well as establishing a valid measurement methodology for myostatin and revising current research data in the light of new criteria of sarcopenia, is needed.

Circulating 20S proteasome for assessing protein energy wasting syndrome in hemodialysis patients.

Protein energy wasting (PEW) including muscle atrophy is a common complication in chronic hemodialysis patients. The ubiquitin proteasome system (UPS) is the main proteolytic system causing muscle atrophy in chronic kidney disease and proteasome 20S is the catalytic component of the UPS. Circulating proteasome 20S (c20S proteasome) is present in the blood and its level is related to disease severity and prognosis in several disorders. We hypothesized that c20S proteasome could be related with muscle mass, other PEW criteria and their evolution in hemodialysis patients. Stable hemodialysis patients treated at our center for more than 3 months were followed over 2 years. C20S proteasome assay was performed at baseline. Biological and clinical data were collected, muscle mass was assessed by multi-frequency bio-impedancemetry, and nutritional scores were calculated at baseline, 1 year and 2 years. Hospitalizations and mortality data were collected over the 2 years. Forty-nine patients were included. At baseline, the c20S proteasome level was 0.40[0.26-0.55] µg/ml. Low muscle mass as defined by a lean tissue index (LTI) < 10th in accordance with the International Society of Renal Nutrition and Metabolism guidelines was observed in 36% and PEW in 62%. Increased c20S proteasome levels were related with LTI at baseline (R = 0.43, p = 0.004) and with its 2 year-variation (R = -0.56, p = 0.003). Two-year survival rate was not different between higher and lower c20S proteasome values (78.9 vs 78.4%, p = 0.98 log-rank test). C20S proteasome is not a good marker for assessing nutritional status in hemodialysis patients and predicting patient outcomes.

Do we need to reconsider the CMAM admission and discharge criteria?; an analysis of CMAM data in South Sudan.

BACKGROUND: Weight-for-height Z-score (WHZ) and Mid Upper Arm Circumference (MUAC) are both commonly used as acute malnutrition screening criteria. However, there exists disparity between the groups identified as malnourished by them. Thus, here we aim to investigate the clinical features and linkage with chronicity of the acute malnutrition cases identified by either WHZ or MUAC. Besides, there exists evidence indicating that fat restoration is disproportionately rapid compared to that of muscle gain in hospitalized malnourished children but related research at community level is lacking. In this study we suggest proxy measure to inspect body composition restoration responding to malnutrition management among the malnourished children. METHODS: The data of this study is from World Vision South Sudan's emergency nutrition program from 2006 to 2012 (4443 children) and the nutrition survey conducted in 2014 (3367 children). The study investigated clinical presentations of each type of severe acute malnutrition (SAM) by WHZ (SAM-WHZ) or MUAC (SAM-MUAC), and analysed correlation between each malnutrition and chronic malnutrition. Furthermore, we explored the pattern of body composition restoration during the recovery phase by comparing the relative velocity of MUAC3 with that of weight gain. RESULTS: As acutely malnourished children identified by MUAC more often share clinical features related to chronic malnutrition and minimal overlapping with malnourished children by WHZ, Therefore, MUAC only screening in the nutrition program would result in delayed identification of the malnourished children. CONCLUSIONS: The relative velocity of MUAC3 gain was suggested as a proxy measure for volume increase, and it was more prominent than that of weight gain among the children with SAM by WHZ and MUAC over all the restoring period. Based on this we made a conjecture about dominant fat mass gain over the period of CMAM program. Also, considering initial weight gain could be ascribed to fat mass increase, the current discharge criteria would leave the malnourished children at risk of mortality even after treatment due to limited restoration of muscle mass. Given this, further research should be followed including assessment of body composition for evidence to recapitulate and reconsider the current admission and discharge criteria for CMAM program.

A case report of severe dermatitis, allergies, and metabolic wasting (SAM syndrome).

The presence of eczema and elevated IgE in pediatric patients does not always indicate atopic dermatitis. Rare genodermatoses may share this clinical presentation and should be considered in the differential diagnosis for patients with congenital immunodeficiency and severe refractory dermatitis. We describe a case of severe dermatitis, allergies, and metabolic wasting syndrome, due to a novel mutation in DSG1 gene, an additional example of this uncommon genetic disorder of desmosome function.

Serum creatinine to cystatin C ratio predicts skeletal muscle mass and strength in patients with non-dialysis chronic kidney disease.

BACKGROUND & AIMS: Muscle wasting is highly prevalent in patients with chronic kidney disease (CKD). However, the assessment of skeletal muscle mass and strength in clinical settings is not commonly available. We aimed to evaluate the feasibility of serum creatinine/cystatin C (Cr/CysC) ratio in the assessment of muscle wasting. METHODS: In 272 patients with CKD aged 66.5 ± 15.1 years, skeletal muscle mass and handgrip strength (HGS) were assessed. Skeletal muscle index (SMI) was calculated as skeletal muscle mass/height2. Low muscle mass was defined as SMI below the sex-specific 10th percentile of study population and low handgrip strength as less than 26 Kg for men and 18 Kg for women. RESULTS: The Cr/CysC ratio was significantly lower in both the low SMI and low HGS groups. Moreover, the Cr/CysC ratio correlated with SMI (r = .306, p < .001) and HGS (r = .341, p < .001). After adjusting for confounding factors, age, sex, waist circumference, body fat mass, and Cr/CysC ratio were independently associated with SMI, whereas age, sex, diabetes, hemoglobin, estimated glomerular filtration rate, urine protein/creatinine ratio, SMI, and Cr/CysC ratio were independently associated with HGS. CONCLUSIONS: Cr/CysC ratio appears to be a promising surrogate marker for detecting muscle wasting in patients with CKD. Further studies are needed to extend our findings.

Anthropometric, biochemical and clinical assessment of malnutrition among Egyptian children with chronic liver diseases: a single institutional cross-sectional study.

BACKGROUND: Malnutrition is a common problem among children with chronic liver diseases (CLD). We aimed to assess the nutritional status of children with CLD and to correlate the anthropometric indices with the severity of liver disease, liver function tests, insulin growth factor-1 (IGF-1) and 25-hydroxy vitamin D (25- OH D). METHODS: A total of 69 patients with CLD and 50 healthy controls (6 months - 6 years) were included in the study. Nutritional status was assessed by anthropometric indices expressed in standard deviation score (Z score), biochemical, hematological and clinical parameters. RESULTS: We found 52.2% of CLD patients underweight by weight for age (W/A); 50.2% were stunted by height for age/ length for age (HAZ or LAZ); and 39% exhibited wasting by weight/height or (length) for age (W/HZ or W/LZ) z scores analysis. The mean values of z scores for all anthropometric parameters were significantly correlated with unconjugated and conjugated bilirubin and INR (p < 0.05), except HAZ or LAZ. Also, a significant correlation to albumin was found, except for W/HZ or (W/LZ) (p = 0.157). The z scores < - 2 SD based on W/ H versus arm indicators showed significant differences in MUAC, UAA and AMA (p < 0.001). We found no correlation between anthropometric z-scores and the mean IGF-1 and (25- OH D) values (p > 0.05). Malnutrition was directly correlated with the severity of hepatic dysfunction, particularly, Child-Pugh C cases. The mean IGF-1 and (25- OH D) values were significantly correlated with the severity of liver disease (p < 0.001). CONCLUSIONS: Our results identified anthropometric arm indicators and MUAC/A measurements as an effective applied methods for assessing nutritional status in CLD children. Moreover, Integrating comprehensive clinical assessment, anthropometric measurements and objective biochemical analyses is essential for evaluation, follow-up and management of CLD children with variable degree of malnutrition.

Role of parathyroid hormone in anorexia on maintenance hemodialysis patients.

BACKGROUND AND AIM: Anorexia, which is a common condition in patients on hemodialysis (HD), is characterized by impaired appetite, a subjective condition that hinders anorexia diagnosis. Anorexia is frequently associated with protein energy wasting and inflammation, increasing morbidity and mortality risk. The aim of the study was to evaluate the association between appetite and nutritional, inflammatory, hormonal, and dietary intake parameters in patients on maintenance HD. METHODS: Cross-sectional study with clinical, laboratory, and anthropometric parameters, body composition, muscle function, and dietary intake assessment. To evaluate appetite, a three simple questions questionnaire previously validated was used. After appetite classification, the sample was dichotomized in "normal appetite" and "impaired appetite" and compared. Multiple logistic regression was used to identify association between variables and outcome. RESULTS: 125 patients on HD were included, aged 60.6 ± 14.12 years old, median HD vintage 35.5 months. In dichotomized sample, 78.4% patients showed "normal appetite", and 21.6% "impaired appetite". "Impaired appetite" was independently associated with increased serum PTH (OR 1.001; 95% CI 1.000-1.002; p = 0.03), low zinc intake (OR 0.860; 95% CI 0.746-0.991; p = 0.03) and lower urea serum (OR 0.982; 95% CI 0.965-0.999; p = 0.04). Both groups showed insufficient dietary intake. CONCLUSIONS: Appetite was independently associated with increased serum of PTH, low serum concentration of urea, and low zinc intake which may infer association of appetite with mineral bone disease, protein intake and zinc deficiency.

[Nutritional Support for Patients with Pancreatic Cancer].

Pancreatic cancer is the ninth common malignancy in South Korea. It has a dismal prognosis with a 5-year overall survival rate of less than 10%, and pancreatic cancer is associated with cancer cachexia, which is defined as the loss of muscle mass that is not reversible by conventional nutritional support. Cachexia is noted in over 85% of all pancreatic cancer patients and it is strongly related with the disease's mortality. Nearly 30% of pancreatic cancer deaths are due to cachexia rather than being due to the tumor burden. Therefore, it is crucial to discover the mechanisms behind the development of muscle wasting in pancreatic cancer patients and find novel therapeutics for targeting cachexia. This review deals with the current understanding about the development of cachexia and nutritional support in those patients suffering with pancreatic cancer.

Fracaso renal atípico / Atypical renal failure

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Prevalence and determinants of stunting and wasting among public primary school children in Gondar town, northwest, Ethiopia.

BACKGROUND: Undernutrition among school age children has an impact on their health, cognition, and educational achievement. Therefore, this study aimed to assess the prevalence and associated factors of stunting and wasting among school age children in Gondar town, northwest, Ethiopia. METHODS: An institution-based cross-sectional study was done among school children aged 6-14 years. Data on socio-demographic, nutritional and dietary status of children were collected using structured questionnaire. Anthropometric measurements were carried out to determine the status of stunting and wasting. Data were entered into Epi-Info version 3.5.3 and transferred to SPSS version 20 for further analysis. Bivariable and multivariable logistic regression models were fitted to identify associated factors of stunting and wasting. Both crude odds and adjusted odds ratios with 95% CI were used to measure the strength of associations. In the multivariable analysis, variables with < 0.05 p-values were considered statistically significant. RESULTS: A total of 523 school age children were with the median age of 12 (10-13 inter quartile range) years participated in the study. The overall prevalence of stunting and wasting among primary school children was 241(46.1%; 95% CI: 42.3, 50.3) and 47 (9%; 95% CI: 6.7, 11.7), respectively. Child age (AOR = 1.9, 95% CI: 1.29, 2.80), public tab/yard water source (AOR = 2.22; 95%CI: 1.46, 3.39), DDS < 4 (AOR = 1.89 95%CI: 1.08, 3.30), tea drinking habit (AOR = 0.46, 95%CI: 0.27, 0.80) and anemia (AOR = 1.72 95%CI: 1.05, 2.83) were significant predictors of stunting. Moreover, child age (AOR = 3.91; 95% CI: 1.62, 9.44), maternal/care-givers' age ≤ 34 (AOR = 0.34; 95%CI: 0.16, 0.71), maternal education (AOR = 2.55; 95%CI: 1.15, 5.65), family poverty (AOR = 3.23; 95% CI: 1.30, 7.93) and alcohol consumption (AOR = 2.93; 95%CI: 1.16, 7.42) were found significantly associated with wasting. CONCLUSION: Stunting and wasting were then major problems among school age children. Child age, water source for dinking, DDS < 4 and anemia resulted in stunting. On the other hand, child age, maternal education and age, family poverty and alcohol drinking were risk factors for wasting. Therefore, launching community based nutritional education programs, implementing school feeding and strengthening economic level of the communities are essential to reduce the problems.

Severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome caused by de novo mutation in the DSP gene misdiagnosed as generalized pustular psoriasis and treatment of acitretin with gabapentin.

Severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome is a recently recognized syndrome caused by mutations in the desmoglein 1 (DSG1) and desmoplakin (DSP) genes. Only two cases of SAM-DSP have been reported. We report on a 2-year-old girl presenting with pustular lakes within areas of erythema and large accumulations of intraepidermal neutrophils, which initially led to our misdiagnosis of generalized pustular psoriasis. No mutation was found in either the IL36RN or CARD14 genes by Sanger sequencing. The distinctive manifestations of erythroderma with severe itching, hypotrichosis, enamel defects, onychodystrophy, palmoplantar keratoderma and the crucial result of de novo missense mutation in exon 14 of the DSP gene (c.1828T>C, p.S610P) discovered by next-generation sequencing finally confirmed the diagnosis of SAM syndrome. The eruptions significantly improved after a 4-week treatment with oral acitretin and topical pimecrolimus. Oral gabapentin was prescribed simultaneously for 4 months, relieving her skin pruritus and suggesting that early treatment with pimecrolimus, acitretin and gabapentin for SAM-DSP syndrome is effective. It may even inhibit multiple allergies induced by skin barrier injury. In this work we also review the clinical features, differential diagnoses and pathological manifestations of SAM-DSP syndrome.