Long-Term Indomethacin Treatment in a Chinese Child with Gitelman Syndrome: Case Report and Literature Review on its Efficacy and Tolerance.

BACKGROUND Gitelman syndrome (GS) is a rare inherited autosomal recessive salt-losing renal tubulopathy. Early-onset GS is difficult to differentiate from Bartter syndrome (BS). It has been reported in some cases that cyclooxygenase (COX) inhibitors, which pharmacologically reduce prostaglandin E2(PGE2) synthesis, are helpful for GS patients, especially in children, but the long-term therapeutic effect has not yet been revealed. CASE REPORT A 4-year-old boy was first brought to our hospital for the chief concern of short stature and growth retardation. Biochemical tests demonstrated severe hypokalemia, hyponatremia, and hypochloremic metabolic alkalosis. The patient's serum magnesium was normal. He was diagnosed with BS and treated with potassium supplementation and indomethacin and achieved stable serum potassium levels and slow catch-up growth. At 11.8 years of age, the patient showed hypomagnesemia and a genetic test confirmed that he had GS with compound heterozygous mutations in the SLC12A3 gene. At the age of 14.8 years, when indomethacin had been taken for nearly 10 years, the boy reported having chronic stomachache, while his renal function remained normal. After proton pump inhibitor and acid inhibitor therapy, the patient's symptoms were ameliorated, and he continued to take a low dose of indomethacin (37.5 mg/d divided tid) with good tolerance. CONCLUSIONS Early-onset GS in childhood can be initially misdiagnosed as BS, and gene detection can confirm the final diagnosis. COX inhibitors, such as indomethacin, might be tolerated by pediatric patients, and long-term therapy can improve the hypokalemia and growth retardation without significant adverse effects.

Association of vitamin A deficiency with early childhood stunting in Uganda: A population-based cross-sectional study.

BACKGROUND: Despite the high prevalence of childhood protein-energy malnutrition and vitamin A deficiency in sub-Saharan Africa, their association has not been explored in this region. A better understanding of the epidemiologic link could help define effective preventive strategies. We aimed to explore the association of vitamin A deficiency (VAD) with stunting, wasting, and underweight among preschool children in Uganda. METHOD: We analyzed a population-based, cross-sectional data of 4,765 children aged 6-59 months who participated in 2016 Demographic and Health Surveys conducted in Uganda. We utilized generalized linear mixed-effects models with logit link function, adjusting for potential confounders to estimate associations between VAD and stunting, wasting, and underweight. RESULTS: The prevalence of VAD was 8.9% (95% CI: 8.1% to 9.6%, n = 424). Twenty-seven percent were stunted (95% CI: 26.1% to 28.6, n = 1302), 4% wasted (95% CI: 3.6% to 4.7%, n = 196), and 17% underweight (95% CI: 16.0% to 18.2%, n = 813). After adjusting for household factors (e.g., wealth index, education and working status of parents, owning land for agriculture, livestock, herds, or farm animals), vitamin A supplementation, and community factors (e.g., population density, crop growing season lengths, place of residence), children with VAD had 43% higher odds of stunted growth than those without VAD (adjusted odds ratio, 1.43 (95% CI: 1.08 to 1.89, p = 0.01). No association was observed between VAD and wasting or underweight. CONCLUSION: Vitamin A deficiency was associated with higher odds of stunting, and the association was independent of the individual, household, and community-level variables.

Prevalence and intensity of Ascaris lumbricoides infections in relation to undernutrition among children in a tea plantation community, Sri Lanka: a cross-sectional study.

BACKGROUND: Ascaris lumbricoides infections are one of the commonnest intestinal nematode infections in the world, with a profound negative effect on nutritional status among underprivileged populations. In Sri Lanka, Ascaris infections and low nutritional status still persist in the plantation sector. However, research regarding the association between Ascaris infections and nutritional status is scarce. The main purpose of this study was to determine the association between Ascaris infections and physical growth among children in a plantation sector in Sri Lanka. METHODS: A cross sectional study was conducted among 489 children aged between 1 and 12 years ina plantation sector, Sri Lanka, from January to April 2013. Anthropometric measurements were collected to assess height-for-age (HAZ), weight-for-age (WAZ) and weight-for-height (WHZ) to determine stunting, underweight and wasting respectively. Data on socio-demographic and antihelminthic treatment were ascertained using an interviewer administrated structured questionnaire. Stool samples were subjected to wet mount preparation followed byformaldehyde-ether sedimentation technique to diagnose Ascaris infection and a Kato Katz technique was performed to determine the eggs intensity. AnthroPlus, EpiInfo and SPSS software was used to analyze data. RESULTS: Of the study sample, 38.4% showed Ascaris lumbricoides infections. Light intensity infections (51%) were common in the infected children, followed by moderate (30%) and heavy (19%) infections. Prevalence of Ascaris infections was significantly associated with de-worming more than six months prior to the study. Prevalence of undernutrition among children was 61.7%. Forty-five per cent were underweight, while 24.1% and 21.5% of children were stunted and wasted respectively. However, no significant association was found between Ascaris infections status and undernutrition. Meanwhile, heavy intensity infections were associated with decreased values of WHZ (p = 0.020). CONCLUSIONS: Ascaris infections and undernutrition are still highly prevalent and a major public health problem in the plantation sector in Sri Lanka. Health and nutrition intervention programs should be implemented to increase the nutritional status of children.

Risk Factors for Growth Retardation in HIV-infected Senegalese Children on Antiretroviral Treatment: The ANRS 12279 MAGGSEN Pediatric Cohort Study.

OBJECTIVES: To describe prevalence and risk factors for wasting and stunting among HIV-infected children with a median duration of 3 years of antiretroviral therapy (ART) at the time of their enrollment in the cohort study. METHODS: Wasting and stunting at ART initiation and enrollment were defined as weight-for-height/body mass index-for-age Z scores < -2 and height-for-age Z scores < -2, respectively. Logistic regression was used to assess risk factors for wasting and stunting. Main predictive factors were age at enrollment, nutritional status and age (< or ≥5 years) at ART initiation and ART duration (< or ≥3 years on first-line, or ≥3 years including a switch to second-line ART). RESULTS: Two hundred forty-four children 2-16 years of age were enrolled. Overall, wasting and stunting prevalence dropped off consistently in children 2-10 years of age, between ART initiation and enrollment, while it remained at high levels, 52% and 42%, respectively, in children 10-16 years of age. Risk factors for wasting at enrollment were ART duration of ≥3 years including a switch to second-line [adjusted odds ratio (aOR): 3.9, 95% confidence interval (CI): 1.7-8.9] and wasting at ART initiation (aOR: 2.7, 95% CI: 1.4-5.2). The risk factor for stunting at enrollment was stunting at ART initiation (aOR: 11.6, 95% CI: 5.4-25.0), independent of ART duration. CONCLUSIONS: Malnutrition at the time of ART initiation was the main predictor of malnutrition at enrollment among HIV-infected children on ART. Longer duration on ART had no overall protective effect on wasting and stunting. Growth and virologic monitoring are of utmost importance in the comprehensive care of children with HIV infection.

Rapid height growth after liver transplantation in adulthood.

Glycogen storage disease Ib is a rare, inherited metabolic disorder caused by glucose-6-phosphatase translocase deficiency. Its main symptoms are hypoglycemia, hyperlipidemia, neutropenia, hepatomegaly, liver adenomas and short stature. The exact mechanism of short stature in this disease is unclear, the most feasible possibility is that it is caused by impairment of growth-hormone and insulin-like growth factor I axis. Here we report the case of a patient who showed typical symptoms of glycogen storage disease Ib since his infancy, his height being under 1 percentile since then. Later-developed hypothyroidism and hypogonadism have also contributed to his short stature. Hypothyroidism was treated but sexual steroid substitution was not started because of an increased risk of hepatic adenomas. Because he developed hepatic adenoma at the age of 23, he had to undergo orthotopic liver transplantation. At the time of the transplantation his height was 128cm. The transplantation was followed by rapid height growth; our patient's height reached 160.3cm 62months after transplantation. We observed that while his IGF-I level increased, his GH level remained unchanged. During the post-transplantation period we ensured adequate calcium and vitamin D supplementation, leaving hormonal substitution unchanged. According to our knowledge, this is the first report of a rapid height growth as big as 32cm, of an individual over the age of 20, not related to endocrine treatment but liver transplantation.

Neonatal growth restriction-related leptin deficiency enhances leptin-triggered sympathetic activation and central angiotensin II receptor-dependent stress-evoked hypertension.

BACKGROUND: Neonatal growth restriction (nGR) leads to leptin deficiency and increases the risk of hypertension. Previous studies have shown nGR-related hypertension is normalized by neonatal leptin (nLep) and exacerbated by psychological stress. With recent studies linking leptin and angiotensin signaling, we hypothesized that nGR-induced nLep deficiency increases adult leptin sensitivity; leading to leptin- or stress-induced hypertension, through a pathway involving central angiotensin II type 1 receptors. METHODS: We randomized mice with incipient nGR, by virtue of their presence in large litters, to vehicle or physiologic nLep supplementation (80 ng/g/d). Adult caloric intake and arterial pressure were monitored at baseline, during intracerebroventricular losartan infusion and during systemic leptin administration. RESULTS: nGR increased leptin-triggered renal sympathetic activation and hypertension with increased leptin receptor expression in the arcuate nucleus of the hypothalamus; all of those nGR-associated phenotypes were normalized by nLep. nGR mice also had stress-related hyperphagia and hypertension, but only the stress hypertension was blocked by central losartan infusion. CONCLUSION: nGR leads to stress hypertension through a pathway that involves central angiotensin II receptors, and nGR-associated leptin deficiency increases leptin-triggered hypertension in adulthood. These data suggest potential roles for preservation of neonatal growth and nLep supplementation in the prevention of nGR-related hypertension.

Determinants of Anemia and Hemoglobin Concentration in Haitian School-Aged Children.

Anemia diminishes oxygen transport in the body, resulting in potentially irreversible growth and developmental consequences for children. Limited evidence for determinants of anemia exists for school-aged children. We conducted a cluster randomized controlled trial in Haiti from 2012 to 2013 to test the efficacy of a fortified school snack. Children (N = 1,047) aged 3-13 years were followed longitudinally at three time points for hemoglobin (Hb) concentrations, anthropometry, and bioelectrical impedance measures. Dietary intakes, infectious disease morbidities, and socioeconomic and demographic factors were collected at baseline and endline. Longitudinal regression modeling with generalized least squares and logit models with random effects identified anemia risk factors beyond the intervention effect. At baseline, 70.6% of children were anemic and 2.6% were severely anemic. Stunting increased the odds of developing anemia (adjusted odds ratio [OR]: 1.48, 95% confidence interval [CI]: 1.05-2.08) and severe anemia (adjusted OR: 2.47, 95% CI: 1.30-4.71). Parent-reported vitamin A supplementation and deworming were positively associated with Hb concentrations, whereas fever and poultry ownership showed a negative relationship with Hb concentration and increased odds of severe anemia, respectively. Further research should explore the full spectrum of anemia etiologies in school children, including genetic causes.

Diarrhoea in slum children: observation from a large diarrhoeal disease hospital in Dhaka, Bangladesh.

OBJECTIVES: To determine and compare socio-demographic, nutritional and clinical characteristics of children under five with diarrhoea living in slums with those of children who do not live in slums of Dhaka, Bangladesh. METHODS: From 1993 to 2012, a total of 28 948 under fives children with diarrhoea attended the Dhaka Hospital of icddr,b. Data were extracted from the hospital-based Diarrhoea Disease Surveillance System, which comprised 17 548 under fives children from slum and non-slum areas of the city. RESULTS: Maternal illiteracy [aOR = 1.57; 95% confidence interval (1.36, 1.81), P-value <0.001], paternal illiteracy [1.37 (1.21, 1.56) <0.001], mother's employment [1.59 (1.37, 1.85) <0.001], consumption of untreated water [2.73 (2.26, 3.30) <0.001], use of non-sanitary toilets [3.48 (3.09, 3.93) <0.001], 1st wealth quintile background [3.32 (2.88, 3.84) <0.001], presence of fever [1.14 (1.00, 1.29) 0.047], some or severe dehydration [1.21 (1.06, 1.40) 0.007], stunting [1.14 (1.01, 1.29) 0.030] and infection with Vibrio cholerae [1.21 (1.01, 1.45) 0.039] were significantly associated with slum-dwelling children after controlling for co-variates. Measles immunisation [0.52 (0.47, 0.59) P < 0.001] and vitamin A supplementation rates [0.36 (0.31, 0.41) P < 0.001] amongst children 12-59 months were lower for slum dwellers than other children in univarate analysis only. CONCLUSIONS: Slum-dwelling children are more malnourished, have lower immunisation rates (measles vaccination and vitamin A supplementation) and higher rates of measles, are more susceptible to diarrhoeal illness due to V. cholerae and suffer from severe dehydration more often than children from non-slum areas. Improved health and nutrition strategies should give priority to children living in urban slums.

Update on nutritional status, body composition and growth in paediatric inflammatory bowel disease.

Growth and nutritional status are important issues in paediatric inflammatory bowel disease (IBD). While linear growth is easy to assess, nutritional status is more complicated, with reports often compromised by the use of simple measures, such as weight and the body mass index, to assess nutritional status rather than more appropriate and sophisticated techniques to measure body composition. This review is an update on what is currently known about nutritional status as determined by body composition in paediatric IBD. Further, this review will focus on the impact of biologics on growth in paediatric IBD. Significant lean mass deficits have been reported in children with IBD compared with controls, and there is evidence these deficits persist over time. Furthermore, data imply that gender differences exist in body composition, both at diagnosis and in response to treatment. With respect to growth improvements following treatment with biologics, there are conflicting data. While some studies report enhancement of growth, others do not. The relationship between disease severity, impaired growth and the requirement for biologics needs to be considered when interpreting these data. However, key features associated with improvements in growth appear to be successful clinical response to treatment, patients in early stages of puberty, and the presence of growth failure at the onset of treatment.

Multivitamin supplements have no effect on growth of Tanzanian children born to HIV-infected mothers.

Growth faltering and micronutrient deficiencies commonly coexist in HIV-exposed children in sub-Saharan Africa, and correcting deficiencies, such as those of vitamins B-complex, C, and E, may improve HIV-related endpoints and child growth. We therefore examined the effect of daily oral supplementation of vitamins B-complex, C, and E on growth among 2341 children born to HIV-infected mothers in Tanzania. HIV-infected women pregnant at ≤32 wk of gestation were enrolled in the study. Children were randomized at age 6 wk to receive multivitamins or placebo until age 104 wk. All women received the same types of vitamins pre- and postnatally. At 6 wk, 256 children (11.1%) were HIV infected and the mean (SD) Z-scores for length for age (LAZ), weight for length (WLZ), and weight for age (WAZ) were -0.39 ± 1.20, -0.21 ± 1.23, and -0.52 ± 1.11, respectively. There was no overall treatment effect on LAZ, WLZ, or WAZ profiles during the follow-up (P ≥ 0.15). There was no treatment effect from 6 to 104 wk on LAZ [(95% CI: -0.14, 0.13); P = 0.94], WLZ [(95% CI: -0.17, 0.13); P = 0.78], or WAZ [(95% CI: -0.15, 0.16); P = 0.97] or on the incidence of growth failure, defined as respective Z-scores < -2 (P ≥ 0.29). Among the subgroup of HIV-uninfected children, there was no treatment effect from 6 to 104 wk on LAZ, WLZ, and WAZ (P ≥ 0.71) or on the incidence of growth failure (P ≥ 0.16). Multivitamin supplements had no effect on growth among children born to HIV-infected women who were themselves receiving multivitamins.

Nutritional supplementation: the additional costs of managing children infected with HIV in resource-constrained settings.

OBJECTIVE: To explore the financial implications of applying the WHO guidelines for the nutritional management of HIV-infected children in a rural South African HIV programme. METHODS: WHO guidelines describe Nutritional Care Plans (NCPs) for three categories of HIV-infected children: NCP-A: growing adequately; NCP-B: weight-for-age z-score (WAZ) ≤-2 but no evidence of severe acute malnutrition (SAM), confirmed weight loss/growth curve flattening, or condition with increased nutritional needs (e.g. tuberculosis); NCP-C: SAM. In resource-constrained settings, children requiring NCP-B or NCP-C usually need supplementation to achieve the additional energy recommendation. We estimated the proportion of children initiating antiretroviral treatment (ART) in the Hlabisa HIV Programme who would have been eligible for supplementation in 2010. The cost of supplying 26-weeks supplementation as a proportion of the cost of supplying ART to the same group was calculated. RESULTS: A total of 251 children aged 6 months to 14 years initiated ART. Eighty-eight required 6-month NCP-B, including 41 with a WAZ ≤-2 (no evidence of SAM) and 47 with a WAZ >-2 with co-existent morbidities including tuberculosis. Additionally, 25 children had SAM and required 10-weeks NCP-C followed by 16-weeks NCP-B. Thus, 113 of 251 (45%) children were eligible for nutritional supplementation at an estimated overall cost of $11 136, using 2010 exchange rates. These costs are an estimated additional 11.6% to that of supplying 26-week ART to the 251 children initiated. CONCLUSIONS: It is essential to address nutritional needs of HIV-infected children to optimise their health outcomes. Nutritional supplementation should be integral to, and budgeted for, in HIV programmes.

Randomized controlled trial of meat compared with multimicronutrient-fortified cereal in infants and toddlers with high stunting rates in diverse settings.

BACKGROUND: Improved complementary feeding is cited as a critical factor for reducing stunting. Consumption of meats has been advocated, but its efficacy in low-resource settings has not been tested. OBJECTIVE: The objective was to test the hypothesis that daily intake of 30 to 45 g meat from 6 to 18 mo of age would result in greater linear growth velocity and improved micronutrient status in comparison with an equicaloric multimicronutrient-fortified cereal. DESIGN: This was a cluster randomized efficacy trial conducted in the Democratic Republic of Congo, Zambia, Guatemala, and Pakistan. Individual daily portions of study foods and education messages to enhance complementary feeding were delivered to participants. Blood tests were obtained at trial completion. RESULTS: A total of 532 (86.1%) and 530 (85.8%) participants from the meat and cereal arms, respectively, completed the study. Linear growth velocity did not differ between treatment groups: 1.00 (95% CI: 0.99, 1.02) and 1.02 (95% CI: 1.00, 1.04) cm/mo for the meat and cereal groups, respectively (P = 0.39). From baseline to 18 mo, stunting [length-for-age z score (LAZ) <-2.0] rates increased from ~33% to nearly 50%. Years of maternal education and maternal height were positively associated with linear growth velocity (P = 0.0006 and 0.003, respectively); LAZ at 6 mo was negatively associated (P < 0.0001). Anemia rates did not differ by group; iron deficiency was significantly lower in the cereal group. CONCLUSION: The high rate of stunting at baseline and the lack of effect of either the meat or multiple micronutrient-fortified cereal intervention to reverse its progression argue for multifaceted interventions beginning in the pre- and early postnatal periods.

Fish oil supplementation is beneficial on caloric intake, appetite and mid upper arm muscle circumference in children with leukaemia.

A randomised trial was carried out to determine the effect of supplementation of fish oil among 51 children with leukaemia aged 4 to 12 years on appetite level, caloric intake, body weight and lean body mass. They were randomly allocated into the trial group (TG) and the control group (CG). At baseline, 30.8% of TG subjects and 44.0% of CG subjects were malnourished and 7.7% of subject from TG and 28.0% from CG were classified as stunted. The majority of subjects from TG and CG were in the mild malnutrition category for mid upper arm muscle circumference (MUAMC)-for-age. The TG group showed significant increment in MUAMC (0.13 cm vs -0.09 cm) compared with CG at 8 weeks (p<0.001). There was a significant higher increase for appetite level (0.12±0.33) (p<0.05) and an increasing trend on energy and protein intake in the TG group (213±554 kcal; 3.64 ±26.8 g) than in the CG group. In conclusion, supplementation of fish oil has a positive effect on appetite level, caloric intake and MUAMC among children with leukaemia.

The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.

Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical features. However, there has been no reported Korean patient with LPI as of yet. We recently encountered a 3.7-yr-old Korean girl with LPI and the diagnosis was confirmed by amino acid analyses and the SLC7A7 gene analysis. Her initial chief complaint was short stature below the 3rd percentile and increased somnolence for several months. Hepatosplenomegaly was noted, as were anemia, leukopenia, elevated levels of ferritin and lactate dehydrogenase, and hyperammonemia. Lysine, arginine, and ornithine levels were low in plasma and high in urine. The patient was a homozygote with a splicing site mutation of IVS4+1G > A in the SLC7A7. With the implementation of a low protein diet, sodium benzoate, citrulline and L-carnitine supplementation, anemia, hyperferritinemia, and hyperammonemia were improved, and normal growth velocity was observed.

Growth, nutritional status, and signs of rickets in 0-5-year-old children in a Kashin-Beck disease endemic area of Central Tibet.

UNLABELLED: In order to describe the growth of 0-5-year-old Tibetan children living in a Kashin-Beck disease (KBD) endemic rural area and to examine the relationship between anthropometric indicators and clinical signs of rickets, we analyzed the baseline data of a cohort of 668 children enrolled in a prospective program of calcium and vitamin D supplementation. Tibetan children suffer from growth retardation. Z score of weight-for-age, height-for-age, weight-for-height was below -2 in 32.5%, 27.7%, and 12.1% of the children, respectively. Clinical signs of severe rickets are highly prevalent. Underweight, stunting, and clinical rickets increases with age. Prevalence of malnutrition was higher in the presence of signs of rickets. The proportion of children with a head circumference Z score < -2 was lowest when signs of rickets were observed. CONCLUSION: Stunting and underweight are frequent and probably associated with rickets.

The First Korean Case of Lysinuric Protein Intolerance: Presented with Short Stature and Increased Somnolence

Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical features. However, there has been no reported Korean patient with LPI as of yet. We recently encountered a 3.7-yr-old Korean girl with LPI and the diagnosis was confirmed by amino acid analyses and the SLC7A7 gene analysis. Her initial chief complaint was short stature below the 3rd percentile and increased somnolence for several months. Hepatosplenomegaly was noted, as were anemia, leukopenia, elevated levels of ferritin and lactate dehydrogenase, and hyperammonemia. Lysine, arginine, and ornithine levels were low in plasma and high in urine. The patient was a homozygote with a splicing site mutation of IVS4+1G > A in the SLC7A7. With the implementation of a low protein diet, sodium benzoate, citrulline and L-carnitine supplementation, anemia, hyperferritinemia, and hyperammonemia were improved, and normal growth velocity was observed.

Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.

Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that cause malnutrition, failure to thrive, growth failure and vitamin E deficiency, as well as other complications. Recently, the gene implicated in CRD was identified. The diagnosis is often delayed because symptoms are nonspecific. Treatment and follow-up remain poorly defined.The aim of this paper is to provide guidelines for the diagnosis, treatment and follow-up of children with CRD based on a literature overview and two pediatric centers 'experience.The diagnosis is based on a history of chronic diarrhea with fat malabsorption and abnormal lipid profile. Upper endoscopy and histology reveal fat-laden enterocytes whereas vitamin E deficiency is invariably present. Creatine kinase (CK) is usually elevated and hepatic steatosis is common. Genotyping identifies the Sar1b gene mutation.Treatment should be aimed at preventing potential complications. Vomiting, diarrhea and abdominal distension improve on a low-long chain fat diet. Failure to thrive is one of the most common initial clinical findings. Neurological and ophthalmologic complications in CRD are less severe than in other types of familial hypocholesterolemia. However, the vitamin E deficiency status plays a pivotal role in preventing neurological complications. Essential fatty acid (EFA) deficiency is especially severe early in life. Recently, increased CK levels and cardiomyopathy have been described in addition to muscular manifestations. Poor mineralization and delayed bone maturation do occur. A moderate degree of macrovesicular steatosis is common, but no cases of steatohepatitis cirrhosis. Besides a low-long chain fat diet made up uniquely of polyunsaturated fatty acids, treatment includes fat-soluble vitamin supplements and large amounts of vitamin E. Despite fat malabsorption and the absence of postprandial chylomicrons, the oral route can prevent neurological complications even though serum levels of vitamin E remain chronically low. Dietary counseling is needed not only to monitor fat intake and improve symptoms, but also to maintain sufficient caloric and EFA intake. Despite a better understanding of the pathogenesis of CRD, the diagnosis and management of the disease remain a challenge for clinicians. The clinical guidelines proposed will helpfully lead to an earlier diagnosis and the prevention of complications.

Recurrent exacerbations of protein-losing enteropathy after initiation of growth hormone therapy in a Fontan patient controlled with spironolactone.

Protein-losing enteropathy (PLE) is a rare, but serious complication in single ventricle patients after Fontan palliation, and is associated with a 5-year mortality of 46%. We describe a patient with PLE after Fontan palliation who achieved remission with high-dose spironolactone (an aldosterone antagonist), but had three exacerbations each temporally correlated with the use of growth hormone (an aldosterone agonist). Because of the opposing mechanisms of action of these two medications, caution might be indicated when using growth hormone for patients with PLE who are successfully treated with spironolactone.

Fungal exposure endocrinopathy in sinusitis with growth hormone deficiency: Dennis-Robertson syndrome.

A retrospective study was carried out on 79 patients with a history of mold exposure, fatigue, and chronic rhinosinusitis (CRS) to determine whether there is a causal relationship between fungal exposure and chronic sinusitis, fatigue, and anterior hypopituitarism, especially growth hormone deficiency (GHD). Of the patients, 94% had a history of CRS, endoscopically and/or computed tomography (CT) confirmed; 100% had chronic fatigue and 100% had either significant history of indoor mold exposure and/or positive mold plate testing as measured by settle plates, with an average colony count of 21 (0-4 normal). A total of 62 had positive mold plate testing and 17 had positive history of mold exposure. Of 75, 73 (97.3%) had positive serum immunoglobulin G (IgG)-specific antibodies to fungal antigens. Out of 8, 7 were positive for urinary trichothecenes. Resting levels of insulin-like growth factor 1 (IGF-1) averaged 123 ng/mL (range 43-285, normal 88-249 ng/mL). Despite normal resting levels of IGF-1, significant deficiency of serum human growth hormone (GH) was confirmed by insulin tolerance test (ITT) in 40 of 50 tested. In all, 51% (40/79) were GH deficient. Primary or secondary hypothyroidism in T3 and/or T4 was seen in 81% (64/79) patients; 75% (59/79) had adrenocorticotrophic hormone (ACTH) deficiency. Fungal exposure endocrinopathy likely represents the major cause of GHD, affecting approximately 4.8 million people compared to approximately known 60,000 cases from all other causes. A literature review indicates a possible mechanism of GHD in fungal exposure is that the fungal glucan receptors in the lenticulostellate cells of the anterior pituitary bind to fungal cells wall glucans and activate the innate immune system, which activates macrophages that destroy the fungus and lenticulostellate tissue. Treatment of patients included normal saline nasal irrigations, antifungal and antibiotic nasal sprays, appropriate use of oral antibiotics and antifungals, facial steamer with CitriDrops. Thymate and/or Intramax vitamin supplements, hormone replacement, and reduction of indoor mold levels. Resolution of rhinosinusitis was seen in 93% (41 of 45) of the patients who achieved a mold count by settling plates of 0-4 colonies. Thirty patients were unable to lower their mold counts below four colonies and had various degrees of mucosal disease and fatigue remaining. Fatigue was improved in all 37 patients who received GH and cortisol and/or thyroid hormone, which were deficient. Fatigue was partially relieved in 7 of the 37 who did not achieve mold counts of fewer than four colonies.