Body composition and dietary intakes in adult celiac disease patients consuming a strict gluten-free diet.

BACKGROUND: Celiac disease responds to dietary gluten withdrawal, but data on the long-term effects of gluten-free diets are discordant. OBJECTIVE: Our aim was to evaluate the nutritional status and body composition of adult celiac disease patients consuming a gluten-free diet who were in clinical, biochemical, and histologic remission. DESIGN: We studied 71 patients (51 women and 20 men; mean age: 27 y; range: 17-58 y) and 142 healthy control subjects matched by sex and age. The subjects' height, weight, body mass index, fat and lean mass, and bone mineral content (evaluated by dual-energy X-ray absorptiometry) were measured; a 3-d dietary questionnaire was administered; and total daily energy, fat, carbohydrate, and protein intakes were calculated. RESULTS: The weight, height, and body mass index of male celiac disease patients and the weight and body mass index of female celiac disease patients were significantly lower than the corresponding measurements in control subjects. The fat and lean mass of both male and female patients was significantly different from that of control subjects; however, bone mineral content was significantly lower only in females in whom celiac disease was diagnosed in adulthood. Total energy intake was lower in the patients than in the control subjects (9686 +/- 1569 and 11297 +/- 1318 kJ/d in males and 6736 +/- 1318 and 7740 +/- 1715 kJ/d in females), and the diet of the patients was unbalanced, with a higher percentage of energy as fat and a lower percentage of energy as carbohydrates. CONCLUSIONS: Although strictly compliant with their gluten-free diet and in complete remission, patients with celiac disease showed differences in body composition and dietary intakes compared with control subjects. Strict follow-up and dietary advice in terms of the choice and composition of foods seem necessary to prevent malnutrition.

Gluten sensitivity in monozygous twins: a long-term follow-up of five pairs.

OBJECTIVE: The aim of this study was to investigate the role of genetic factors and the characteristics of five monozygous twin pairs with at least one member affected by gluten sensitivity. METHODS: Five pairs of monozygous female twins, of whom one or both were affected by gluten sensitivity (i.e., celiac disease or dermatitis herpetiformis), were followed-up for 11-23 yr. RESULTS: Three pairs were concordant for celiac disease: the onset was comparable and synchronous in two pairs; in the third, one member presented an overt malabsorption syndrome, and the other developed iron deficiency anemia 10 yr later. Discordance for gluten sensitivity was found in the remaining two pairs, one of whose members was diagnosed as having, respectively, celiac disease and dermatitis herpetiformis. CONCLUSIONS: As no environmental factors were found to affect the phenotypic expression of the disease, genetic factors seem to play a major role. The presence of overt or latent celiac disease in three of the four siblings of the three concordant twins, and the association with cystic fibrosis in all three siblings of one of these families, further supports this hypothesis.

Irritable bowel syndrome in children: an Italian multicentre study. Collaborating Centres.

A multicentre study was carried out on 285 children suffering from irritable bowel syndrome (IBS). Patients were divided according to clinical symptoms and age: Toddler's diarrhoea (TD) under 3 years of age and recurrent abdominal pain (RAP) over 3 years of age characteristics in children with TD and RAP were compared with those found in 114 subjects suffering from various gastrointestinal diseases (GIC) and in 192 normal children. This analysis allowed a complete profile of children with IBS in Italy to be obtained. The TD group, and to a lesser extent the RAP group, differ from the GIC and healthy controls (HC) on the basis of telephone calls to the doctor, physician visits, inappropriate dietary restrictions, multiple medications and multiple non-GI complaints. For children under 3, a history of food intolerance and the presence of mucus and undigested food in the feces are the variables that discriminate patients with IBS from those with GIC; for children over 3, colics in the first 3 months of life, a history of food intolerance, loose feces with abdominal pain, pain relieved by evacuation and undigested vegetables in the feces most discriminate the two groups. Finally, we tried to compute a diagnostic score to discriminate IBS children from GIC: this proved to be sensitive to IBS but not specific enough to be of clinical utility.

Need for follow up in coeliac disease.

The use of follow up studies was evaluated in 128 patients with coeliac disease during their first visit to a department for adults. The original diagnosis had been made in childhood in all patients. Fifty eight (45%) of the subjects were following a gluten free diet, 23 (18%) were following a gluten free diet but with occasional gluten consumption, and 47 (37%) had adopted an unrestricted, gluten containing diet for a mean of 11.2 years. There was no correlation in individual subjects between the presence of symptoms, biochemical and immunological abnormalities, severity of histological findings, and the amount of dietary gluten, despite the greater frequency of symptoms in the group following an unrestricted diet than in the other two groups. Short stature and epilepsy with cerebral calcifications only occurred in patients following an unrestricted diet. As only diagnosis based on two or three biopsy samples and regular follow up correlated positively with dietary compliance, it is suggested that a histologically confirmed diagnosis of coeliac disease and regular lifelong follow up are essential in the management of these patients.

Acute lymphoblastic leukaemia in a child with cystic fibrosis.

The association of cystic fibrosis (CF) and acute lymphoblastic leukaemia (ALL) is extremely rare. Only three cases have been reported in the literature and all of them had a fatal outcome. In this paper we describe the case of a little girl who was diagnosed with CF (mild course) when she was five months old, and who presented at the age of five years with ALL (intermediate risk). Complete Remission (CR) was rapidly obtained with standard chemotherapy for ALL.; treatment was continued for two years without major complications and with no apparent influence on the course of CF. The patient remains alive and well and in continuous CR four years after discontinuing treatment, and six years after the diagnosis of ALL.

Severe nephropathy in three adolescents with cystic fibrosis.

Renal involvement has rarely been reported in patients with cystic fibrosis. We describe severe nephropathy with a rapidly fatal outcome in three adolescents with cystic fibrosis, and evaluate the important repercussions that the nephrotic syndrome had on the precarious clinical situation of these patients.

Electrophoretical patterns of seminal plasma proteins in patients with cystic fibrosis.

Seminal plasma (n = 12) from cystic fibrosis (CF) patients were analyzed by gel-electrophoresis using seminal plasma and expressed prostatic secretion from fertile men as controls. Heavy precipitation at the entering position of the gel and streaking in the gel matrix was observed, demonstrating a reduced solubility of seminal proteins in CF. Comparison of the protein patterns evidenced that CF-seminal plasma (CF-SP) mainly consisted of prostatic components. Although lactoferrin was undetectable in all samples, trace amounts of low molecular weight proteins were observed in two patients. This latter finding could imply that CF-SP may contain proteolytic fragments of prostatic and/or vesicular proteins or de novo synthesized components.

Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study.

The locus D7S23 includes a CpG-enriched methylation-free island that maps midway between the markers J3.11 and met and is genetically very close to the mutation causing cystic fibrosis (CF). We have studied the linkage disequilibrium between four polymorphic markers from this locus (KM.19, CS.7, XV-2c, and PT-3) and the CF mutation (CF) in 127 Italian families. Strong linkage disequilibrium is found between KM.19, CS.7, and CF, and weaker but significant disequilibrium is found between XV-2c, PT-3, and CF. The disequilibrium between markers and CF for the Italian population provides additional information on the origin and homogeneity of the CF defect. This panel of probes is sufficiently informative to permit accurate prenatal diagnosis of CF in most families with an affected person, and the disequilibrium also allows indirect carrier detection/exclusion in some cases.

Role of IgE in the pathogenesis of milk allergy in infancy: reassessment by a new ELISA technique.

An ELISA technique using labelled antigen for the determination of cow's milk specific IgE in serum is described. The use of labelled antigen, rather than labelled antibody as in the RAST, permits avoidance of interference by antibodies other than IgE, such as IgG, at times responsible for a negative RAST. The results obtained with the 2 techniques in 43 infants with a positive cow's milk challenge showed a positive RAST in 28%, a positive ELISA in 35% and a positive RAST or ELISA in 42%. These findings suggest that the use of both ELISA and RAST permits in vitro diagnosis of cow's milk allergy in more patients than either test alone.

Serum bile acid composition in patients with cystic fibrosis.

Serum bile acid composition was examined in detail using capillary column gas chromatography and mass spectrometry in 10 children with cystic fibrosis (CF) and 4 healthy children. The mean total bile acid concentration in fasting serum of CF patients was 2.33 +/- 0.84 mumol/l, slightly lower than but not statistically significantly different from healthy controls (mean 2.86 +/- 0.98 mumol/l) and appeared to show no relationship to the degree of exocrine pancreatic insufficiency. Analysis of individual serum bile acids in these children showed that cholic acid represented less than 10% of the total bile acids. Chenodeoxycholic acid was the predominant serum bile acid; the mean concentration in CF patients was 0.98 +/- 0.51 mumol/l, lower than for the healthy controls (1.69 +/- 0.84 mumol/l). Concentrations of lithocholic acid, 3 beta-hydroxy-5-cholenoic, ursodeoxycholic and 3 beta, 7 alpha, 12 alpha-trihydroxy-5 beta-cholanoic acids in fasting serum samples of the CF patients were not significantly different from the healthy control sera but were higher than those normally found in adults. Measurements of fecal bile acid excretion indicated an increased loss of primary bile acids in patients with CF consistent with an impairment of the enterohepatic circulation of bile acids.

Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis.

Taking advantage of the availability of an archive of consanguineous marriages that gives accurate estimates of consanguinity in Italy, it has been possible to calculate the increase of first- and second-cousin marriages among 624 couples of cystic fibrosis (CF) parents over the general population. From these estimates, the incidence of CF in Italy has been found to correspond approximately to 1/2,000. In turn, the same data have been used to test the hypothesis of genetic heterogeneity of CF, recently proposed, which is based on the presence of two distinct genetic disorders having similar frequencies. If such a hypothesis were true, the number of first-cousin marriages among CF parents should be significantly higher than that observed in our present study. Finally, the segregation analysis of 624 CF sibships has yielded under multiple selection a segregation ratio of 0.252, confirming the recessive mode of inheritance.

[Protocol of treatment of acute diarrhea in infancy]. / Protocollo della terapia delle diarree acute nella prima infanzia.

We suggest some guidelines for symptomatic treatment of acute diarrhea in infants under two, as it has been tested both in several hospital departments. Considering some well-known employed clinical and metabolic evaluations, cases (uncommon) needing sudden parenteral treatment are distinguished from those less serious ones (more common) when previous feeding is quickly re-established using oral rehydratation.

Evaluation of an oral ursodeoxycholic acid load in the assessment of bile acid malabsorption in cystic fibrosis.

Serum levels of ursodeoxycholic acid (UDCA) were measured by radioimmunoassay in 20 children with cystic fibrosis (CF) and in eight controls, who had received 300 mg of this bile acid orally. Area under the curve (AUC) after UDCA load was significantly reduced (25.24 +/- 9.54) in CF patients, as compared to controls (52.98 +/- 5.87 mean values +/- SD percent dose/liter X hr X kg body weight, P less than 0.001). AUC values were compared with daily fecal bile acids (BA) and fat excretion, and with serum fasting conjugated cholic (CCA) and chenodeoxycholic (CCDCA) acid levels. Total fecal BA were increased in CF patients (7.84 +/- 5.57 mg/kg/day) as compared to control values (2.7 +/- 1.1 mean +/- SD, P less than 00.5); they were inversely correlated with AUC values (r = 0.48) but not with steatorrhea (r = 0.32). UDCA load seems to be useful in detecting BA malabsorption in CF. Fasting CCA levels did not significantly differ in CF patients (0.87 +/- 0.61 mumol/liter) and in controls (0.60 +/- 0.26 mumol/liter) and did not correlate with fecal BA excretion. Fasting CCDCA mean levels were significantly increased (mainly in CF patients with liver damage), suggesting a lowered first-pass extraction in the liver: their determination may be useful in the follow-up of liver involvement in CF.

Acute hepatitis B in infants born to HBsAG asymptomatic carrier mothers.

Within an eight-month period, five cases of acute hepatitis B were observed in children born to asymptomatic HBsAg carrier mothers. At delivery, four mothers were HBeAg-positive and one was anti-HBe-positive. At an average age of 17+/-3 weeks the infants showed high transaminases levels and appearance of markers of HBV infection. Three children became HBsAG chronic carriers, one had a brief HBsAg-antigenemia (1 week), while the last one showed clinical and biochemical signs of hepatitis B in absence of detectable HBsAg but with anti-HBc and anti-HBe (window phase) and later became anti-HBs-positive.