The diagnosis of X-linked Alport syndrome is often difficult, but the demonstration of lenticonus and retinopathy may facilitate the diagnosis in adult patients. The aim of this study was to determine the diagnostic usefulness of ocular examination in children. Fourteen families with at least one affected child were studied clinically, and COL4A5 mutations were determined. The families included 15 affected boys (median age 11 years, range 4-19 years). Two boys (13%) had renal failure, nine (60%) had a known hearing loss, one (7%) had lenticonus and five (33%) had a central (4/15, 27%) or peripheral (4/14, 29%) retinopathy. Lenticonus and retinopathy were first noted in 14 and 11 year olds, respectively. All boys with retinopathy had a hearing loss. The early onset retinopathy was associated with a severe mutation (Q1383X). Eight families (8/14, 57%) comprised only sons and mothers, and two mothers (2/12, 17%) had the retinopathy. Six boys (40%) would have been diagnosed with Alport syndrome on the basis of their own or their mother's ocular examinations. None of the six girls (median age 8 years, range 7-14 years) had ocular abnormalities. Hearing loss is usually highly sensitive for the diagnosis of Alport syndrome, but ocular examination of boys and their mothers at the initial consultation is a non-invasive test that is helpful in up to 40% cases.

Chronic allograft nephropathy (CAN) is now the leading cause of renal transplant loss in paediatric transplant recipients. Despite improvements in immunosuppression, which have significantly reduced the incidence of acute rejection, the rates of chronic kidney loss have remained unchanged in paediatric transplant patients over the last 20 years. Chronic allograft nephropathy is a pathological diagnosis of which the key features are tubular atrophy and interstitial fibrosis. More consistent definitions and grading of these through the Banff classification have allowed more rigorous study of the development of chronic allograft nephropathy along with further identification of specific lesions associated with the underlying aetiologies. While initially thought to be primarily due to immune injury, it is now evident that CAN is the end result of a variety of immune and non-immune injuries including ischaemia reperfusion injury, calcineurin inhibitor (CNI) toxicity and infections. Protocol biopsy studies have demonstrated rates of CAN development in children similar to those in adults with comparable underlying pathological processes. This review outlines the current knowledge of CAN within the context of paediatric renal transplantation.

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