Aims: Nephronophthisis (NPH) is a major cause of end-stage renal failure in children. Up to date, mutations in 18 different genes (NPHP1–18) have been described of which the gene products all localize to the primary cilium. Mutations of these genes result in an impaired ciliary function, classifying NPH as one of the most common ciliopathies in childhood.
In addition to the well-described renal phenotype, mutations in NPHP genes may result in variable neurological disorders such as the Joubert syndrome, COACH syndrome, Meckel-Gruber syndrome, and the congenital oculomotor apraxia Cogan type II. All of the mentioned neurological manifestations can present clinically either as isolated disorders or together with NPH.
Many of the underlying gene defects have been clarified within the last decade. However, still little is known about the long-term clinical course of these patients. There are neither long-term data on the influence of extrarenal symptoms on the morbidity and mortality of patients with NPH, nor information about how often and to what extent renal symptoms do occur in neurological ciliopathies with underlying NPHP mutations.
Methods: The NPH registry www.nephreg.de is the first online-based patient registry, focusing on the assessment of the clinical course of patients with NPH and associated ciliopathies in German-speaking countries.
Results: To date, we present the data of 111 registered pediatric patients, 50% of them presenting with an NPH associated ciliopathy.
Conclusion: By additional registration of patients suffering from ciliopathy with primary neurological features, we would further complete the complex clinical picture of NPH and NPH-associated ciliopathies. For this reason, we would highly welcome the support of the Gesellschaft für Neuropädiatrie.