Silvia Ghione

Interstitial lung disease in children

Childrens interstitial lung disease (ILD) includes a wide range of rare respiratory disorders associated with high morbidity and mortality. Genetic factors, systemic disease processes, nonspecific inflammatory or fibrotic patterns of repair seen in a number of clinical settings are involved in the ILD pathogenesis. Specific disorders more prevalent in young children include diffuse developmental disorders, alveolar growth abnormalities, genetic surfactant disorders, pulmonary interstitial glycogenosis and neuroendocrine cell hyperplasia of infancy. It may be difficult to recognize these entities and this can lead to delayed treatment. The diagnostic approach is based on a combination of history/physical examinations, imaging studies, pulmonary function testing, genetic testing, bronchoalveolar lavage (BAL) and in most cases an open lung biopsy. Although some disease types overlap with those seen in adults, in this review emphasis is placed on entities unique to the pediatric population focusing on clinical characteristics, histologic definitions, radiologic-pathologic correlation and therapeutic strategies.

IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene

BACKGROUNDShort stature represents one of the main features of children with Noonan syndrome. The reason for impaired growth remains largely unknown.OBJECTIVETo assess GH and IGF1 secretion in children with Noonan syndrome. Patients: 12 prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene [7 males, 6 females; median age, years: 8.6 (range 5.1–13.4)] were studied; 12 prepubertal children with short stature (SS) [7 males, 5 females; median age, years: 8.1 (range 4.8–13.1)] served as the control group. Measurements: GH secretion after arginine stimulation test; IGF1 generation test by measurement of IGF1 levels before and after recombinant GH (rGH) administration (0.05 mg/kg/day for 4 days).RESULTSBaseline and stimulated peak values of GH were not significantly different between the two groups. At +120 minutes, GH levels remained significantly higher (p = 0.0121) in comparison with baseline values in children with Noonan syndrome. Baseline IGFI levels in patients and in SS controls were not significantly different, in contrast to values after the rGH generation test [205 ng/mL (interquartiles 138.2–252.5 ng/mL) and 284.5 ng/mL (inter-quartiles 172–476 ng/mL), respectively; p = 0.0248]. IGF1 values were significantly related to height (baseline: r = 773, p = 0.0320; peak: r = 0.591, p = 0.0428) in children with Noonan syndrome.CONCLUSIONSBlunted increase of IGF1 after the rGH generation test was present in children with Noonan syndrome due to mutations in the PTPN11 gene in comparison with SS children. This finding may be due to partial GH resistance in the former likely related to altered Ras-MAPK signaling pathway.

Growth impairment and growth hormone-IGF-1 axis in infantile anorexia nervosa.

Abstract Background: Infantile anorexia nervosa (AN) is a specific eating disorder of prepubertal children. Poor data are available on growth hormone (GH)-insulin-like growth factor 1 (IGF-1) axis in this disorder. Patient report: We report on a boy (4.5 years) with progressive growth impairment. At psychiatric assessment (DC: 0-3 R, AXIS I), he fulfilled all required criteria for diagnosis of infantile AN. Endocrine evaluation suggested impaired peripheral response to GH (high GH and low IGF-1 levels), likely related to energy deficiency. Methods: Auxological evaluation was shown as raw data and SDS using Italian reference values. GH secretion was assessed by arginine provocative test; IGFI generation test was done administering recombinant GH (0.05 mg/kg/day for four days). Psychiatric assessment was performed according to the DC:0-3R protocol. Conclusion: Impaired GH-IGF-1 axis may be involved in growth delay of children with infantile AN. A strict collaboration between endocrine pediatricians and child psychiatrists is advisable in the assessment of poor growing children without recognizable organic causes, showing normal/high GH levels and low IGF-1 values.