Elevated lead levels in children with nonorganic failure to thrive

Every child with failure to thrive has at least one organic medical disease: malnutrition. It is well documented that lead and other heavy metals are absorbed more readily in the presence of both malnutrition and iron deficiency anemia. Malnutrition and lead exposure tend to be found in the same population groups. Furthermore, lead poisoning is correlated with many of the identical intellectual and behavioral deficits demonstrated in children suffering from nonorganic failure to thrive. Because of these facts, whole blood lead levels were determined for 45 children with nonorganic failure to thrive and 45 age-, race-, and socioeconomically matched comparison subjects. Children with failure to thrive had a lead level of 22.67 +/- 10.29 (micrograms/dL (mean +/- SD); for control children, it was 14.33 +/- 5.42 (P less than .001). Children with failure to thrive were more frequently anemic (P less than .0001), a possible lead effect, and had higher free erythrocyte protoporphyrin levels. Children with failure to thrive were developmentally delayed on the Denver Developmental Screening Test (unblinded observation) with high failure rates in both language (P less than .001) and gross motor skills (P less than .02). Although failure on the Denver Developmental Screening Test within the failure to thrive group was not linearly correlated with lead level, any such effects may have been masked by the effects of malnutrition and failure to thrive per se. A number of authors have suggested that lead levels formerly thought to be inconsequential are clinically toxic.(ABSTRACT TRUNCATED AT 250 WORDS)     

The quality of life in developing age subjects with chronic renal diseases

AIM: Renal pathologies have an hard impact on ill children's life style, psychic and physical development. In the last years, even if medical cures allowed these children to live longer and to have a better quality of life, today both their families and themselves have to face a lot of difficulties due to the kind of pathology. These children show behaviour troubles, bad sociability, aggressiveness, poor school performance, anxiety and depression, and then the subjects with chronic renal failure show a retard in neurological and cognitive development. In this study we evaluated the impact that the chronic renal illness has on children and adolescents' quality life. METHODS: For this study, we have used the Impact of Childhood Illness Scale. It includes 30 questions that value 4 aspects of the child and family's life style: illness and its treatment, impact on the child, impact on parents and impact on the family. For every question, it considers the frequency of the problem and the degree of the worry that it causes. We gave the questionnaire to 47 couples of parents' children who are suffering from chronic renal diseases (19 subjects with nephrotic syndrome, 7 with chronic glomerulenephritis, 10 with chronic renal failure, 5 dialysed, 6 with kidney transplant). All parents compiled the questionnaire. RESULTS: The obtained results showed that developing age subjects, who are affected by chronic renal diseases, can have emotional and behavioural difficulties that have an effect on subject and on his family. Their parents live in a continuous stress state because chronic pain and anxiety cause depression, a sense of inadequacy and frustration. CONCLUSIONS: As in every chronic physical illness, the sick child and his family are obliged to face a series of physical, behavioural and emotional changes. Besides, they are faced by possible collateral effects of the illness and of its treatments on development.     

Children with chronic organ failure possibly ending in organ transplantation: a survey in an Italian region of 5,000,000 inhabitants

Aim: The Italian Piedmont region sponsored in 2005 a population-based registry to assess the epidemiology of childhood chronic organ failure involving kidneys, liver, heart or lungs.
Methods: Patients in chronic organ failure who were younger than 18 years were selected, and entered the registry when accomplishing the standard failure criteria for each organ. The cases were reported by the general paediatricians of the region and integrated with the data gathered by the Children University Hospital, a tertiary care centre.
Results: In Piedmont (647 727 inhabitants < 18 years), a total of 146 children (217 cases per million of paediatric population) were found to be affected by chronic organ failure (mean age 10 years; range 0–17). The organ failure involved kidneys in 68 subjects (48%), liver in 24 (17%), heart in 21 (15%) and lungs in 28 (20%), and was severe in 32 subjects (6 on transplantation waiting list). The most represented disease leading to chronic renal failure was renal hypodysplasia (79%). Chronic liver failure was mostly caused by biliary atresia (30%), autoimmune hepatitis (25%) and Wilson's disease (21%). Dilated cardiomyopathy (62%) and surgically treated congenital cardiopathy were the two leading causes of chronic heart failure. The most represented disease leading to chronic lung failure was cystic fibrosis (89%).
Conclusion: This is the first report of the literature focusing on the epidemiology of chronic organ failure in children encompassing a region of 4 000 000 inhabitants. This clinical condition is rare, but medically and socially very demanding not only in childhood but the life along, as most of these patients will need solid organ transplantation decades later.     

Mental disorders in chronically ill children: parent-child discrepancy and physician identification.

Mental disorders affect 18% to 20% of children and adolescents. The rate in children with chronic illness is probably higher. This study of chronically ill children addresses the discrepancy between parent and child reports of child psychiatric disorders and the extent to which pediatricians agree with reports by children and parents regarding such problems. Eighty-three subjects, aged 9 to 18 (mean = 12.6), were recruited; they had the following diagnoses: cystic fibrosis, diabetes, inflammatory bowel disease, and cancer. Subjects and one parent were interviewed separately, using the Diagnostic Interview Schedule for Children (DISC-2.1). The subject's physician completed a questionnaire asking about the presence of a range of mental disorders. Forty-one (49%) subjects reached threshold criteria for a psychiatric diagnosis, using both parent and child as informants. Psychiatric disorders were identified in only 22 subjects (54%) by the child and in 28 (68%) by parent alone. Thus, reliance on one informant resulted in failure to identify one third to one half of psychiatric disorders. Physicians' ratings agreed significantly with children's reports but not with parental reports, suggesting that physicians are sensitive to children's concerns but may underestimate the value and importance of parents' reports. Clinical and research evaluations of chronically ill children, as well as clinician identification of mental health problems, will be influenced by the choice of informant.     

Neurodevelopmental progress of young children with chronic renal disease

Neurodevelopmental progress was prospectively studied in 33 children with chronic renal disease during a mean of 1.68 years. The mean age of the children when first evaluated was 1.11 years. Children with all levels of renal dysfunction were included, although end stage renal disease developed in 17 at some time during the study. When last evaluated, 10 of the children were developmentally delayed, 8 mildly delayed, and 2 moderately delayed. The developmental level achieved was significantly related to the children's growth and to the severity of their renal impairment. Also found was a strong correlation between the developmental quotients at first and final evaluations. This finding suggests that improvement throughout time is unlikely and underlines the need for early diagnosis and treatment of such infants. These observations suggest that the neurodevelopmental outcome of infants with chronic renal disease is considerably better than previously reported.     

Interstitial nephropathy, tapeto-retinal degeneration and cataract. Apropos of a new case

A case of chronic interstitial renal disease is reported. Onset was manifested at the age of three by polyuria and polydipsia. The child was hospitalized at the age of eleven for renal failure and tapetoretinal degenerescence with cataract were found. The simultaneous occurrence of interstitial renal disease and tapetoretinal degenerescence is well-known. However, this case where cataract was also present illustrates the fact that tapetoretinal degenerescence is not the only ocular abnormality found in this interstitial nephropathies.     

Recombinant Human Growth Hormone Treatment of Children with Chronic Renal Failure: Update 1990

ABSTRACT. Nine children with growth retardation due to chronic renal failure were treated with recombinant human growth hormone (rhGH) for 12-36 months. Results demonstrated a significant increase in height velocity at each 12-month interval compared with that achieved during the year prior to treatment. However, the increase in bone age was no greater than the increase in chronological age during the period of treatment. The mean calculated creatinine clearance did not decrease significantly during the 36 months of treatment; however, two patients required institution of dialysis at 18 and 30 months following initiation of rhGH treatment. There was no exacerbation of the glucose intolerance of uraemia following treatment. Currently, 6 of 7 patients who have been treated for more than 24 months have achieved sufficient acceleration in height velocity to attain an SDS of less than -2.00 and are above the 5th centile for chronological age on the growth curve. These updated data indicate that rhGH treatment of growth retarded children with chronic renal failure continues to result in accelerated height velocity during the second and third year of treatment, and demonstrate the potential for such children to achieve normal stature (±2 SD) for chronological age despite the continued presence of chronic renal failure.     

3例Mowat-Wilson综合征患儿的临床特点及遗传学分析

Mowat-Wilson综合征（MWS）是一种由E盒结合锌指蛋白2（ZEB2）基因突变导致的罕见常染色体显性遗传病,临床表现多样,主要表现为智力障碍/全面发育迟缓、面容特殊,并伴有多种先天畸形。该文报道3例经ZEB2基因分析确诊为MWS患儿的临床特点和基因突变结果。3例均有先天性巨结肠及面容异常,其中病例1于4月龄死于重型心衰和肺炎,因年龄小,家长未能发现其全面发育迟缓,另2例均有重度全面发育迟缓。3例患儿均为ZEB2基因新生杂合无义突变携带者,其中c.756C > A （p.Y252X）为未见报道的新发突变,该类突变可产生截短蛋白,具有明确致病性。MWS临床和遗传异质性大,若患儿面容与MWS高度符合,且存在智力障碍/全面发育迟缓,合并多种先天畸形,临床医生应警惕MWS,基因检测有助于确立诊断。     

Renal Granulomatous sarcoidosis in childhood: a report of 11 cases and a review of the literature

We analysed retrospectively 11 children with renal granulomatous sarcoidosis confirmed by renal histology in order to describe the course and prognosis of the disease. Symptomatic sarcoidosis was diagnosed at a mean age of 10.1 years. Nine children had renal involvement at the time of diagnosis. In the course of the disease, nine patients developed renal failure and mild proteinuria, seven had transient sterile leucocyturia, four showed microscopic haematuria, seven had a urinary concentrating defect, and enlarged kidneys were seen in three patients. One child had hypercalcaemia and hypercalciuria, none had hypertension. Light microscopy of the kidney showed interstitial infiltration by mononuclear cells in all children, interstitial fibrosis in nine patients, epithelioid granulomas in seven, tubular involvement in eight, and mild glomerular involvement in seven patients. Renal immunofluorescence was negative. Ten children received prednisone for 1–11 years. After a mean follow up of 5.5 years, three patients had entered end-stage renal failure and one had chronic insufficiency after interruption of medical supervision and prednisone therapy. Conclusion Renal failure, proteinuria, leucocyturia, haematuria, and concentration defect are the prominent features of renal granulomatous sarcoidosis in children. Steroid therapy, adjusted according to disease activity, may prevent end-stage renal failure. Received: 4 December 1997 / Accepted in revised form: 22 June 1998     

The multifactorial origin of growth failure in thalassaemia

Growth failure in thalassaemia major (TM) has been recognised for many years, and has persisted despite major therapeutic advances. The child with TM has a particular growth pattern, which is relatively normal until age 9-10 years; after this age a slowing down of growth velocity and reduced or absent pubertal growth spurt are observed. The pathogenesis of growth failure is multifactorial. The fundamental problem is the free iron and hemosiderosis-induced damage of the endocrine glands. Additional factors may contribute to the aetiology of growth delay including chronic anaemia and hypoxia, chronic liver disease, zinc and folic acid and nutritional deficiencies, intensive use of chelating agents, emotional factors, endocrinopathies (hypogonadism, delayed puberty, hypothyroidism, disturbed calcium homeostasis and bone disease) and last but not least dysregulation of the GH-IGF-1 axis.Three phases of growth disturbances according to age of presentation are well recognised, and have different aetiologies: in the first phase growth disturbance is mainly due to hypoxia, anaemia, ineffective erythropoiesis and nutritional factors. During late childhood (second phase), growth retardation is mainly due to iron overload affecting GH-IGF-1 axis and other potential endocrine complications. Although appropriate iron chelation therapy can improve growth and development, TM children and adolescents treated intensively with desferrioxamine remain short as well, showing body disproportion between the upper and lower body segment. After the age of 10-11 years (third phase), delayed or arrested puberty is an important contributing factor to growth failure in adolescent thalassaemics, who do not exhibit a normal growth spurt. During the last decades therapeutic progress and bone marrow transplantation resulted in a prolonged life expectancy in TM patients. Growth retardation, however, continues to be a significant challenge in these individuals, often affecting their social adjustment and quality of life.     

Association of bilateral renal dysplasia and congenital hepatic fibrosis

A young baby with jaundice and failure to thrive was found to have severe chronic renal failure and chronic cholestatic liver disease. She was the first child of healthy unrelated parents and died at the age of three months. Autopsy revealed bilateral renal dysplasia and congenital hepatic fibrosis. This particular association of kidney and liver disease has only rarely been observed. It must be differentiated from autosomal recessive polycystic liver and kidney disease.     

Intellectual outcome in children with fetal hypothyroidism

Eighty children with congenital hypothyroidism detected by newborn screening were grouped for presence of fetal hypothyroidism using skeletal maturity at the time of diagnosis as the index. Forty-five children with bone age less than 36 weeks were assigned to the delayed group; 35 with bone age 37 weeks to term were assigned to the nondelayed group. Although most children with athyrosis were found in the delayed group, the groups did not differ in birth weight, hormone levels, or family background. Assessments of intellectual and behavioral characteristics at 1, 2, 3, 4, and 5 years of age revealed that, although children in the delayed group performed within the normal range, their scores were significantly lower than those of the nondelayed group from age 2 years on. Perceptual-motor, visuospatial, and language areas were most affected. There were no differences in behavior or temperamental characteristics.     

Intellectual and motor functions in school children from severely iodine deficienct region in Sikkim

High prevalence of endemic goitre (54%) and endemic cretinism (3.5%) exist in Sikkim. The level of intellectual functioning and motor performance were assessed in 90 school children in the age group of 10 to 12 years selected randomly from four severely iodine-deficient villages. Bender Visual Motor Gestalt Test, Binet-Kamat Test for mental ability and Raven’s Coloured Progressive Matrices were the tests used. The results show an impairment in intellectual and other neuropsychological functions in a high percentage of the children. Visuomotor coordination was poor in 62 (69%). Binet-Kamat test results showed that 19 (21%) children were intellectually subnormal (IQ<70). Majority of the children (>80%) had significant impairment in language, meaningful memory, non-meaningful memory, conceptual thinking, numerical reasoning and motor skills. The children did better on non-verbal reasoning and social intelligence. Goitre was detected in 82 (91.1%). Urine samples for iodine estimations was collected from every second child examined. The mean urinary iodine concentration was 4.23 ug/dl (SD 2.16). Urinary iodine concentration was less than 2 micro gm/dl in 26.1% (11 children) and less than 5 micro gm/dl in 84.8% (39 children) indicating severe iodine deficiency. The test results show impairment of psychomotor development in children born and brought up in iodine-deficient environment.     

Motor Development in Children with Sotos' Cerebral Gigantism

The purpose of this study was to examine and describe the motor development of 11 children with Sotos' syndrome. The children ranged in age from 5 to 14 years. The Bruinink-Oseretsky Test of Motor Proficiency (BOTMP) was used to assess motor skills. Results indicated motor performance of Sotos' subjects was substantially below normal age expectations. A comparison between Sotos' subjects and children of comparable age and intelligence (n=72) revealed no significant difference in seven of the eight subtests of the BOTMP. On the eight subtest, Balance, the Sotos' subjects performed significantly lower (p<.01) than the mildly mental retarded group. A pattern of specific motor concerns in children with Sotos' syndrome was revealed including generally delayed gross motor skills, balance and deficits and poor eye-hand coordination. Implications for occupational physical therapy and future research on children with Sotos' syndrome are offered.     

Recombinant human growth hormone treatment in infants with chronic renal failure

Poor growth is a particular problem for children with congenital renal disease. A one year trial of the use of recombinant human growth hormone (rhGH) in eight infants and young children with chronic renal failure is reported here. At entry bone age was less than 2 years, mean (range) chronological age 1.9 (1.3-2.7) years, and glomerular filtration rate (GFR) was 17 (9-42) ml/min/1.73 m2. Height standard deviation score (SDS) was -3.3 (-4.6 to -2.0) and height velocity SDS was -1.3 (-3.1 to 0.7). One child was withdrawn when he received a renal transplant after 9.5 months. Two children required dialysis, but remained in the trial. Treatment with rhGH resulted in an increase in height SDS to -2.2 (-4.2 to -0.9), p = 0.0002, and height velocity SDS to 1.1 (-0.7 to 2.6), p = 0.006. There was no change in GFR and no serious adverse events. There was no effect on plasma lipids, calcium, phosphate, intact parathyroid hormone, or glucose. Alkaline phosphatase rose significantly. Thus rhGH improved growth in eight infants with chronic renal failure, with four children entering the normal range.     

Successful renal transplantation accelerates development in young uremic children

To examine the impact of renal transplantation on subsequent development of children with chronic renal failure, 37 children undergoing primary renal transplantation at or before 30 months of age whose allograft functioned for at least 1 year were prospectively studied. Psychometric tests were performed an average of 4 months before transplantation; reevaluation was done an average of 14 months after surgery. Comparison of individual pretransplantation and posttransplantation mental development scores in 33 patients, assessed by either Bayley Mental Development Index or Stanford-Binet Intelligence Quotient, revealed an average increase of 12.6 (P less than .001). After transplantation, there was a significant improvement in mental performance in 12 of 18 patients (P less than .02) from the range of mild delay (Mental Development Index or Stanford-Binet IQ score = 50 to 69) to the range of normal mental development (greater than or equal to 70). The Bayley Psychomotor Development Index scores were frequently lower than Mental Development Index scores and also increased an average of 14.4 (P less than .01) after transplantation in all 12 patients with paired data. Significant individual improvement in occipital-frontal circumference standard deviation score (P less than .001) was noted in 24 children after transplantation. It is concluded that successful renal transplantation in young children with chronic renal failure is often associated with significant improvements in cognitive and psychomotor function, as well as improved cephalic growth.     

Long-term psychological outcome of children after surgery for transposition of the great arteries

To assess the psychological consequences of a single congenital heart defect, we tested intellectual function, self-perception,'body image", child psychiatric symptoms and the family climate in 21 boys and 10 girls, at a mean age of 13.2y, on average 11.5 y after surgery for transposition of the great arteries. Where applicable, test norms were used for comparison. WISC-R IQ tended to be slightly lower than that of the general population. Self-perception, as reflected on the"I think I am"test, was normal."Body image"as measured by the"Draw-a-man"test was poor in the boys, but did not show a relationship with any other test tapping mental health. Six children (19%) had clinically significant child psychiatric symptoms, which is slightly more than expected, and were overrepresented in patients with poorer cardiac function. Five of these represented"internalizing"disorders. The patients'families scored higher than expected on the family climate"chaos"subscale, which has been demonstrated to be associated with the development of psychiatric symptoms. Overall, however, the children and their families were regarded as socially and psychologically well-functioning.     

Experience with long-term care of dialyzed children and children with kidney transplants

By the increasing number of children with terminal renal failure the experience in the care of these patients has grown. In this paper the treatment of 197 children with chronic renal insufficiency observed from 1969 to 1980 at the University Children's Hospital in Heidelberg is summarized. A concept of integrated care adjusted to the stage of the disease was adopted. Emphasis is given to obtain a smooth transition from one therapeutic stage (conservative treatment, hospital dialysis, home dialysis, transplantation) to another. The clinical course of the patients including death is presented. The main medical and psychosocial problems arising at the end-stage of renal failure are discussed: the indications for continuing therapy, the choice of vascular access for dialysis and the form of dialysis treatment. The advantages of home dialysis as well as its stress on child and parents are underlined. The main role of dialysis is to prepare the child for transplantation and to replace renal function in the meantime. In spite of the obvious advantages of transplantation in allowing an improved quality of life, the somatic and psychologic stress involved should be kept in mind. We conclude that during all therapeutic stages passed by children with chronic renal failure a preventive approach should be favoured from the clinical as well as from the psychological point of view.     

Serum prolactin levels in renal insufficiency in children

Basal prolactin concentrations in forty-eight children with acute or chronic renal disease have been compared with those in thirty-four healthy control subjects. Elevated basal prolactin levels and an abnormal prolactin response to intravenous thyrotropin-releasing hormone were found in children with chronic renal failure on maintenance intermittent haemodialysis. No significant change in plasma prolactin concentrations and osmolality was observed before and after haemodialysis, despite a fall in plasma creatinine concentrations. The elevated prolactin levels fell to normal in three patients after successful renal transplantation. It is suggested that the kidney has an important role to play in prolactin metabolism.