The breath hydrogen test (BHT) was adapted for use in young infants and children. The diagnostic criterion of sugar malabsorption in the BHT was determined by oral administration of 0 5 g/kg of unabsorbable sugar (lactulose) to 21 healthy infants and children. A maximum increase in breath hydrogen >0 05 ml/min per m2 was observed in all subjects. A good correlation between results by the BHT and by the ordinary lactose tolerance test was obtained after oral administration of 2 g/kg lactose to 21 healthy infants and children, 2 congenital lactase-deficient infants, and 7 adults. Using this test, 80 healthy Japanese infants and children (aged between one month and 15 years) and 18 adults were examined for lactose malabsorption after a dose of 1 g/kg lactose. All infants and children under 2-years old absorbed lactose completely. The incidence of lactose malabsorption was 30 % in 3-year, 36 % in 4-year, 58 % in 5-year, and 86% in 6-year-old children, 85 % in schoolchildren, and 89 % in adults. Thus the incidence of lactase deficiency gradually increases with age from 3 years, and about 90 % of all normal Japanese adults are lactase-deficient.

Pediatrics InternationalVolume 45, Issue 3 p. 281-283 Urinary sulfated bile acid concentrations in infants with biliary atresia and breast-feeding jaundice Toshihiro Muraji, Toshihiro Muraji Department of Surgery, Kobe Children's Hospital, Kobe,Search for more papers by this authorTokuzo Harada, Tokuzo Harada School of Allied Health Sciences, Osaka University, Osaka, andSearch for more papers by this authorKazunori Miki, Kazunori Miki Department of Pediatrics, Itami City Hospital, Itami, JapanSearch for more papers by this authorTakanobu Moriuchi, Takanobu Moriuchi Department of Surgery, Kobe Children's Hospital, Kobe,Search for more papers by this authorMasayuki Obatake, Masayuki Obatake Department of Surgery, Kobe Children's Hospital, Kobe,Search for more papers by this authorChikara Tsugawa, Chikara Tsugawa Department of Surgery, Kobe Children's Hospital, Kobe,Search for more papers by this author Toshihiro Muraji, Toshihiro Muraji Department of Surgery, Kobe Children's Hospital, Kobe,Search for more papers by this authorTokuzo Harada, Tokuzo Harada School of Allied Health Sciences, Osaka University, Osaka, andSearch for more papers by this authorKazunori Miki, Kazunori Miki Department of Pediatrics, Itami City Hospital, Itami, JapanSearch for more papers by this authorTakanobu Moriuchi, Takanobu Moriuchi Department of Surgery, Kobe Children's Hospital, Kobe,Search for more papers by this authorMasayuki Obatake, Masayuki Obatake Department of Surgery, Kobe Children's Hospital, Kobe,Search for more papers by this authorChikara Tsugawa, Chikara Tsugawa Department of Surgery, Kobe Children's Hospital, Kobe,Search for more papers by this author First published: 26 June 2003 https://doi.org/10.1046/j.1442-200X.2003.01710.xCitations: 16 Toshihiro Muraji MD, Department of Surgery, Kobe Children's Hospital, Kobe, Japan, 1-1-1 Takakuradai, Sumaku, Kobe 654-0081, Japan. Email: [email protected] Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Mowat AP, Davidon LL, Dick MC. Earlier identification of biliary atresia and hepatobiliary disease. Selective screening in the third week of life. Arch. Dis. Child 1995; 72: 90−92. 2 Makino I, Hashimoto H, Shinozaki K et al. Sulfated and nonsulfated bile acids in urine, serum, and bile of patients with hepatobiliary diseases. Gastroenterol. 1975; 68: 545−53. 3 Matsui A, Kasano Y, Yamauchi Y et al. Direct enzymatic assay of urinary sulfated bile acids to replace serum bilirubin testing for selective screening of neonatal cholestasis. J. Pediatr. 1996; 129: 306−8. 4 Yamane H, Muraji T, Katayama T et al. Determination of Urinary Sulfated Bile Acid (USBA) in newborn baby and evaluation of its diagnostic utility as a screening assay for congenital atresia of bile duct. J. Kobe Univ. Sch. Med. 1997; 13: 1−7. 5 Japanese Biliary Atresia Society. Japanese Biliary Atresia Rigistry, 1998. Jap. J. Pediatr. Surg. 2000; 36: 348−53. 6 Tazuke Y, Matsuda K, Adachi K et al. Purification and properties of bile acid sulfate sulfatase from Pseudomonas testosteroni. Biosci. Biotech. Biochem. 1994; 58: 889−94. Citing Literature Volume45, Issue3June 2003Pages 281-283 ReferencesRelatedInformation

The authors report on 2 patients with biliary atresia in whom pulmonary hypertension (PH) developed in the long-term follow-up after hepatoportoenterostomy. Both had portal hypertension and had undergone distal splenorenal shunt. Dyspnea developed around 14 to 15 years of age. Cardiac catheterization showed pulmonary artery pressure (PAP) of 99/37 (58) and 67/32 (48) mm Hg, respectively, which did not respond to vasodilators. One patient suffered from respiratory tract infection followed by right heart failure and subsequent death at 20 years of age. Postmortum histological findings exhibited severe thickening of the pulmonary artery wall. PH may grow insidiously even after successful hepatoportoenterostomy. Careful monitoring of PAP and hemodynamic response of PAP to vasodilators is essential for evaluating the reversibility of PH and making treatment decisions.

We followed up 5 patients with transient neonatal thyroid dysfunction born to mothers with Graves’ disease from 5 to 10 years and assessed their outcome in physical growth and intellectual development as well as thyroid function. The patients consisted of 3 girls, including a pair of siblings, and 2 boys. Four of them had transient neonatal hyperthyroidism and the other boy had transient neonatal hypothyroidism with normal thyrotropin. The mother of the latter patient developed hyperthyroidism during the second trimester of her pregnancy. The mothers of the former patients were found hyperthyroid before bearing the children. We analyzed physical findings, growth and intellectual development as well as thyroid function including anti-thyroid antibodies and anti-TSH receptor antibody. Mild thyromegaly developed in 2 patients with transient neonatal hyperthyroidism. Short stature was seen in a patient with neonatal hyperthyroidism in whom an excess band on the X chromosome was found. One patient had only a borderline IQ but the other three with neonatal hyperthyroidism had above average ability, whereas moderate delay in psychomotor development was seen in the patient with neonatal hypothyroidism. In the sibling patients, anti-thyroid antibodies have been positive since 6 years of age. Further follow-up is required to know the final outcome of these patients.

Iodide transport defect (ITD) is a rare disorder causing congenital hypothyroidism. We previously reported that homozygous T354P mutation in the sodium/iodide symporter (NIS) gene caused ITD. To clarify the prevalence of this mutation, artificial substitution introducing PCR followed by restriction enzyme analysis was developed as a rapid screening method to detect the T354P mutation. Three apparently unrelated families with ITD, one patient with low thyroidal 99mTc pertechnetate (99mTcO4-) uptake and 52 healthy controls (104 alleles) were analyzed for this mutation. All families with ITD harbored the mutation, suggesting that T354P is a recurrent mutation and a major cause of ITD. This was not a widespread mutation, because it was not detected in the 52 unrelated normal controls. Because two cases with homozygous T354P mutation developed multinodular goiters within their second decade of life though they had been maintained in euthyroid state, homozygous T354P mutation alone and/or low intrathyroidal iodide and high serum TSH level in early life might account for tumorigenesis. The patient with low thyroidal 99mTcO4- uptake did not harbor the T354P mutation. Because familial hypocalciuric hypercalcemia was also present in this family, a possibility of the combined abnormality of TSH receptor and calcium functions, which includes an abnormality around the G protein, may be examined further.

PURPOSE:To determine the clinical utility of cervical ultrasound in patients suspected of having congenital hypothyroidism.METHODS:Thirty-seven patients with suspected congenital hypothyroidism underwent ultrasound and scintigraphic evaluation of the thyroid anatomy, morphology, and function. The ultrasound findings and laboratory data were compared with the standard-of-reference scintigraphic findings and laboratory data for diagnosing specific causes in those patients, and prognosis was correlated with the ultrasound findings.RESULTS:Ultrasound was not reliable for detecting ectopia (n = 8) or differentiating ectopia from aplasia (n = 1). Ultrasound showed ectopia in six (four in the mouth floor and two in the tongue base) of eight cases (75% sensitivity). Ultrasound did not show one ectopia in the floor of mouth because its echogenicity was similar to that of surrounding tissues. A second ectopia, in the hypopharynx, was missed because of hindrance of the laryngeal air. Radioactive iodine uptake and scintigraphy was required for the patients with enlarged glands in the normal place to differentiate dyshormonogenesis from other categories. Specific causes were diagnosed correctly with ultrasound findings and laboratory data alone in all of the 20 patients who had hemiaplasia or small or normal-size glands in the normal location. Incidences of heterogeneity and hypoechogenicity of the thyroid gland in patients with prolonged clinical course (whose replacement therapy or follow-up extended for more than 1 year) were significantly higher than those in patients with short clinical course.CONCLUSION:Ultra-sound can obviate the need for scintigraphy in more than half (54%) of patients with possible congenital hypothyroidism. Ultrasound has a potential to predict prognosis of these patients.

The vitamin A status of 19 patients with corrected biliary atresia was examined. They had been receiving 5,000 IU of oral vitamin A daily postoperatively. Plasma vitamin A levels in the nonjaundiced group were almost within normal range, whereas those in the jaundiced group were significantly low compared with the controls. In the oral vitamin A tolerance test, plasma vitamin A levels increased from 33.1 +/- 11.8 to 215.4 +/- 100.7 micrograms/dL in the nonjaundiced group, and from 23.1 +/- 10.3 to 209.8 +/- 154.2 micrograms/dL in the slightly jaundiced group, at 4 hours after the administration of vitamin A, showing no difference between both group and control. In the severely jaundiced group, plasma vitamin A levels increased from 13.5 +/- 3.5 to 30.0 +/- 14.6 micrograms/dL, a significantly smaller increase compared with controls. However, liver vitamin A levels were greater than 20 micrograms/g liver in all patients, irrespective of the presence of jaundice. This study suggested that nutritional support to facilitate the synthesis of retinol-binding protein may be an important factor in addition to vitamin A supplementation.

To prevent the development of metabolic disturbances caused by overeating, we performed vertical banded gastroplasty in an adult woman with Prader-Willi syndrome. Her fasting blood sugar (FBS) and urinary sugar excretion (US) decreased during 6 months after the surgery under strict dietary control in the hospital. The insulin response to oral glucose at 6 months after surgery was as good as in the normal controls. A barium meal study in the 11th postoperative month revealed that the staple line was partially ruptured. After this, FBS and US increased, and the glucose tolerance and insulin response worsened. At 24 months, US was still less than preoperative US, and the oral glucose tolerance test showed a better result than before operation. At 29 months, her condition was brought under control with use of Glibenclamide. At 60 months, her FBS and US were at the same level as before operation. She was doing a part-time job. In conclusion, the effect of gastroplasty in preventing worsening of glucose metabolism in a case of Prader-Willi syndrome lasted satisfactorily for 24 months in spite of the partial breakdown of the staple line.

A vertical banded gastroplasty was performed in an adult female patient with Prader-Willi syndrome in an attempt to prevent the metabolic deterioration caused by polyphagia. After her operation, the patient felt satiated with the scheduled amount of food and one month later, her fasting blood sugar concentration (FBS) decreased from 521 to 125 mg/dl, and her urinary sugar excretion (US) from 257 to 9g/day. Both glucose tolerance and insulin secretion were also improved. However, these parameters subsequently became worse after dietary control was lost since the surgical procedure alone was unable to continue to suppress the insatiable desire to eat food. Both her glucose tolerance and insulin secretion by the 31st postoperative month were better than before the surgery, but worse than at one month after the surgery. At the end of the 34th postoperative month, even under the temporary administration of 0.625 mg/day of glibenclamide, her FBS was 158 mg/dl and US, 38.1 g/day. Her body weight had also increased to over her preoperative value. Based on these results, we conclude that the effect of gastroplasty to prevent metabolic deterioration in our patient with Prader-Willi syndrome gradually diminishes.

Our study of insulin-dependent diabetic teenagers proved that a multiple insulin injection regimen (MIR) can be an acceptable and effective method of glycemic control. Further, the artificial beta cell can be used to determine insulin requirements for MIR. And finally, continuous indirect calorimetry can be used to assess metabolic control in diabetes.

To determine the frequency of gastric acid hypersecretion in infants with chronic malabsorption due to short bowel syndrome, acid secretory function was determined in 23 infants with malabsorption 2-22 months following small bowel resection and in a control group of 14 chronically ill, age- and weight-matched infants who did not undergo bowel resection. The prevalence of basal acid hypersecretion (defined as acid output 2 SD above the mean for the control group) was 17% (4 of 23). Basal gastric acid hypersecretion was associated with two factors: massive small bowel resection and initiation of enteral feeding. Basal acid hypersecretion was present on the initial study in 3 of 7 infants with less than one-third of the small bowel remaining, but in only 1 of 16 with more than one-third intact (p less than 0.05). Hypergastrinemia was present in 3 of 6 infants following massive bowel resection, but in only 1 of 15 with more than one-third intact (p less than 0.05), but hypergastrinemia was not consistently associated with hypersecretion. In each of six previously unfed infants, a trial of enteral feeding resulted in increased basal and maximal acid output. Three infants developed basal acid hypersecretion during initiation of enteral feeding. There was no evidence of pentagastrin-stimulated maximal acid hypersecretion in any of the infants.

Serum levels of 25-hydroxyvitamin D (25-OHD) and 1,25-dihydroxyvitamin D (1,25-(OH)2D) were measured on 19 occasions in seven children receiving total parenteral nutrition (TPN). The daily intakes of vitamin D3 ranged from 44 to 540 IU/day, and all serum samples were obtained after the same daily intake of vitamin D3 for more than 1 month. There was a significant positive correlation between serum 25-OHD levels and parenteral vitamin D3 intakes (r = 0.90, p less than 0.01). In this study, serum 25-OHD levels in all cases taking 200 to 360 IU/day of vitamin D3 were within the normal range. On the other hand, no significant correlation was found between serum 1,25-(OH)2D levels and vitamin D3 intakes, and serum 1,25-(OH)2D levels were normal or elevated in all cases.

To establish normal values for gastric secretory function in preterm infants, we studied 34 healthy preterm infants once a week during hospitalization. Basal acid output, pentagastrin-stimulated acid output, fasting serum gastrin, and fasting serum pancreatic polypeptide were measured during each study. Basal acid output at 1 week of age was 12 mumol/kg/hr, increasing over the first 4 weeks to 30 mumol/kg/hr. Administration of pentagastrin 6 micrograms/kg subcutaneously increased acid output in all age groups. Pentagastrin-stimulated acid output at 1 week was 21 mumol/kg/hr, increasing over the first 4 weeks to 44 mumol/kg/hr. Acid secretion did not change significantly over the next 4 to 6 weeks. Fasting serum gastrin concentration was stable over the first 6 weeks of life, but doubled during the end of the second month. Pancreatic polypeptide was found at low levels throughout the study. These studies confirm that the majority of healthy preterm infants secrete acid in quantity sufficient to maintain the gastric pH less than or equal to 4, providing a barrier to bacteria and protein antigens.

We studied the effect of ranitidine given in graded bolus intravenous doses on gastric acid hypersecretion in an unfed 3-month-old male with short bowel syndrome. We measured gastric volume and H+ serially for 12 h following each bolus and correlated inhibition of H+ secretion with plasma ranitidine concentration. In the first 4 h post drug, doses of 0.3, 1.0, 2.0, and 4.0 mg/kg resulted in 78, 93, 97, and 98% inhibition, respectively. The cumulative 12-h effect of the drug was to inhibit H+ secretion 67, 63, 72, and 87%. The IC50 for H+ secretion was between 50 and 100 ng/ml, and the IC90 between 130 and 150 ng/ml. Volume of gastric secretions was reduced by approximately 50% by all ranitidine doses. Because gastric acid hypersecretion interferes with nutrient absorption, the infant was treated with ranitidine during a 5-week trial of enteral feeding. A decrease in the antisecretory effect of ranitidine apparent at the end of the treatment period temporally related to an increase in oxyntic mucosal function. No adverse drug effects were observed during treatment.

AbstractA patient with ornithine transcarbamylase deficiency (8‐year‐old) was treated by protein restriction and oral administration of essential amino acids, arginine and sodium benzoate for 13 months. During the period of therapy, her growth and weight gain were slightly improved. Parameters of nutritional assessments, such as N balance, lymphocyte counts in peripheral blood, serum albumin and urinary 3‐methylhistidine were also improved during the therapy.

Basal acid output and meal-stimulated acid output were measured in newborn infants after nasogastric infusion of 5% glucose and elemental formula, respectively. In six older infants (age range 6 to 31 months), basal acid output was 0.067 +/- 0.017 mmol/kg/hr and maximal acid output was 0.200 +/- 0.028 mmol/kg/hr. Meal-stimulated acid output in four of six older infants was 0.149 +/- 0.038 mmol/kg/hr. In eight healthy newborn infants basal acid output was 0.038 +/- 0.008 mmol/kg/hr; meal-stimulated acid output was 0.064 +/- 0.011 mmol/kg/hr (P less than 0.01). The time course of the secretory response to the elemental formula was as described previously after a protein meal in adults: the rate of acid secretion increased after 20 minutes and remained greater than the basal rate through the remainder of the 90 minute test period. These results demonstrate that in human newborn infants a mixed meal containing protein hydrolysate induces an acid secretory response that is qualitatively similar to but weaker than the response in older infants and adults.