Translational pediatrics: reflections for the 21st century and beyond

Guido Fanconi is probably one of the most famous pediatricians and can be easily considered the founder of Modern Pediatrics in many aspects.Professor Fanconi was not only a Swiss pediatrician but one of the most reliable and authentic personalities in the field of pediatrics spanning at least the last two centuries (1,2).Born in Poschiavo, a municipality in the Bernina Region of Switzerland, in an initially wealthy family but disgraced in poverty after the Spanish-American war, Fanconi grew up in a small community of his hometown in the Canton of Grisons.He fought to become a physician due to several challenges in his life but reached such a professional level to give his name to several conditions and diseases in pediatrics.Fanconi was a determined medical student who started his career as a pathologist and physiologist with excellent knowledge of pathology, physiology, and biochemistry, of which the last was probably crucial for his success in medicine.The polyglot Fanconi entered the Universitäts-Kinderspital Zürich (Children's University Hospital of Zurich, Switzerland) in 1911 and remained in this institution for almost 45 years.At the astonishing age of 37 years, he became the chairman and head of the Kinderspital despite some growing rumors that he was more interested in research and biochemistry than truly possessing outstanding clinical skills to manage the chair position at the Universitäts-Kinderspital Zürich.These rumors were proven blatantly false because the Kinderspital became one of the most prominent pediatric hospitals worldwide under his direction.Fanconi described a hereditary pan-myelopathy with hyperpigmentation and short stature, now known as Fanconi anemia (FA) (1).Currently, the diagnosis of FA is made when there is an increase of breakage at chromosome level and the detection of "radial forms" on cytogenetics of lymphocytes and/or one of the next genetic features (3).They include either a heterozygous variation in RAD51 recognized to determine the FA with autosomal dominant inheritance, or a hemizygous variation in FANCB recognized to induce X-linked FA, or biallelic variants identified in one of the genes recognized to trigger FA with autosomal recessive inheritance (3).Later, cystic fibrosis (CF), a multisystem complex disease involving epithelia of the exocrine portion of the pancreatic gland, hepatobiliary system, intestinal, and respiratory tracts, was first depicted in a thesis under his direction.Currently, the diagnostic identification of CF is based on a proband affected with one or more distinctive phenotypic features associated with proof of an abnormality in the function of the "cystic fibrosis transmembrane conductance regulator" (CFTR).His interpretation directed to pathophysiologic links climaxed in his estimate that trisomy 21 syndrome (Down syndrome) is owing to a chromosomal aberration, notably about two decades before the extra-chromosome 21 was found.Fanconi's name is also associated with renal physiology.De Toni-Fanconi or De Toni-Fanconi-Debré-Lignac syndrome is a rare renal disorder.This syndrome's

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