Growth in Common Inherited Disorders – Cystic Fibrosis, Sickle Cell Disease and Phenylketonuria

  • Ruth Ayling


In many countries the introduction of neonatal screening programmes has led to the early detection of genetic disorders which previously presented with symptoms in childhood. In the UK disorders detected by neonatal screening include cystic fibrosis, sickle cell disease and phenylketonuria. Improvements in lifelong care, including nutritional management, for patients diagnosed with these conditions in infancy have resulted in changes in the patterns of growth previously documented. Normal or near-normal growth is now frequently observed in children with cystic fibrosis, although the pubertal growth spurt still tends to be delayed. Growth in sickle cell disease tends to be delayed although final height is usually normal and there is an association with height and the level of medical care provided. Treatment of phenylketonuria requires strict limitation of protein in order to restrict phenylalanine intake and early diets were associated with growth retardation. This was recognised and modification of dietary regimens followed and normal growth is now seen in this patient group.


Cystic Fibrosis Sickle Cell Disease Cystic Fibrosis Patient Neonatal Screening Pubertal Growth Spurt 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.Clinical BiochemistryDerriford HospitalPlymouthUK

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