Amélie Stern-Delfils1, Marie-Aude Spitz2, Myriam Durand3, Cathy Obringer4, Nadège Calmels5, Jérôme Olagne6, Komala Pillay7, Karen Fieggen8, Vincent Laugel9, Ariane Zaloszyc10. 1. Réanimation néonatale, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. 2. Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Centre d'Investigation Clinique INSERM-CIC 1434, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. 3. Centre d'Investigation Clinique INSERM-CIC 1434, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. 4. Laboratoire de Génétique médicale, Faculté de Médecine de Strasbourg, Hôpitaux Universitaires de Strasbourg, France. 5. Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. 6. Service de Néphrologie-Transplantation, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Département de pathologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. 7. Department of Pathology, National Health Laboratory Services, University Cape Town, Cape Town, South Africa. 8. Division of Human Genetics, Department of Medicine, University Cape Town, Cape Town, South Africa. 9. Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Laboratoire de Génétique médicale, Faculté de Médecine de Strasbourg, Hôpitaux Universitaires de Strasbourg, France. 10. Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address: ariane.zaloszyc@chru-strasbourg.fr.
Abstract
BACKGROUND: Cockayne Syndrome (CS) is a rare autosomal recessive multi-systemic disorder, characterized; by developmental delay, microcephaly, severe growth failure and sensorial impairment. Renal complications have been reported but remain underinvestigated. The objective of this study was to perform a review of renal disease in a cohort of CS patients. METHODS: We retrospectively collected relevant clinical, biochemical and genetic data from a cohort of 136 genetically confirmed CS patients. Blood pressure (BP), proteinuria, albuminemia, uric acid, creatinine clearance, renal ultrasounds and renal biopsy result were analysed. RESULTS: Thirty-two patients had a renal investigation. We found that 69% of investigated patients had a renal disorder and/or an elevated BP. Fifteen out of 21 patients (71% of investigated patients) had an increased BP, 10 out of 16 patients (62% of investigated patients) presented with proteinuria and 4 of them had a nephrotic syndrome. Thirteen patients out of 29 (45%) had a decreased Glomerular Filtration Rate (GFR), 18 out of 25 patients (72%) had a hyperuricemia. No correlation with the genetic background or clinical types of CS was found, except for the renal clearance. CONCLUSIONS: Renal disease, increased blood pressure and hyperuricemia were highly prevalent in our study. We believe that CS patients should benefit from a nephrological follow-up and that anti-uric acid drug and Angiotensin-converting enzyme (ACE) inhibitor should be discussed in these patients.
BACKGROUND:Cockayne Syndrome (CS) is a rare autosomal recessive multi-systemic disorder, characterized; by developmental delay, microcephaly, severe growth failure and sensorial impairment. Renal complications have been reported but remain underinvestigated. The objective of this study was to perform a review of renal disease in a cohort of CSpatients. METHODS: We retrospectively collected relevant clinical, biochemical and genetic data from a cohort of 136 genetically confirmed CSpatients. Blood pressure (BP), proteinuria, albuminemia, uric acid, creatinine clearance, renal ultrasounds and renal biopsy result were analysed. RESULTS: Thirty-two patients had a renal investigation. We found that 69% of investigated patients had a renal disorder and/or an elevated BP. Fifteen out of 21 patients (71% of investigated patients) had an increased BP, 10 out of 16 patients (62% of investigated patients) presented with proteinuria and 4 of them had a nephrotic syndrome. Thirteen patients out of 29 (45%) had a decreased Glomerular Filtration Rate (GFR), 18 out of 25 patients (72%) had a hyperuricemia. No correlation with the genetic background or clinical types of CS was found, except for the renal clearance. CONCLUSIONS:Renal disease, increased blood pressure and hyperuricemia were highly prevalent in our study. We believe that CSpatients should benefit from a nephrological follow-up and that anti-uric acid drug and Angiotensin-converting enzyme (ACE) inhibitor should be discussed in these patients.
Authors: Lee Mulderrig; Juan I Garaycoechea; Zewen K Tuong; Christopher L Millington; Felix A Dingler; John R Ferdinand; Liam Gaul; John A Tadross; Mark J Arends; Stephen O'Rahilly; Gerry P Crossan; Menna R Clatworthy; Ketan J Patel Journal: Nature Date: 2021-11-24 Impact factor: 69.504