Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome.
| Title: | Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome. |
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| Authors: | Merdler-Rabinowicz R; Pediatric Department A, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pode-Shakked B; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Vivante A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Division of Pediatric Nephrology, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Pediatric Department B, Edmond and Lily Safra Children's Hospital, , Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Lahav E; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Division of Pediatric Nephrology, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Kagan M; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Division of Pediatric Nephrology, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Pediatric Department B, Edmond and Lily Safra Children's Hospital, , Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Chorin O; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Somech R; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Raas-Rothschild A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Annick.Rothschild@sheba.health.gov.il.; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel. Annick.Rothschild@sheba.health.gov.il. |
| Source: | Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2021 Dec; Vol. 36 (12), pp. 4009-4012. Date of Electronic Publication: 2021 Sep 27. |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE |
| Imprint Name(s): | Publication: Berlin : Springer International; Original Publication: Berlin : Springer International, c1987- |
| MeSH Terms: | Urinary Tract*/diagnostic imaging ; Abnormalities, Multiple* ; Hematologic Diseases* ; Vestibular Diseases*; Face/*abnormalities; Kidney/diagnostic imaging ; Adolescent ; Child ; Child, Preschool ; Humans ; Infant ; Infant, Newborn ; Male ; Urogenital Abnormalities ; Vesico-Ureteral Reflux ; Young Adult |
| Abstract: | Background: Kabuki syndrome (KS) is a genetic disorder caused mainly by de novo pathogenic variants in KMT2D or KDM6A, characterized by recognizable facial features, intellectual disability, and multi-systemic involvement, including short stature, microcephaly, hearing loss, cardiac defects, and additional congenital anomalies. While congenital anomalies of the kidneys and urinary tract (CAKUT) are known manifestations of this disorder, studies focused solely on kidney involvement are scarce, and its prevalence is most likely underestimated. This study aimed to describe the prevalence and nature of CAKUT and other renal manifestations, in a cohort of KS patients followed at a single tertiary center.; Methods: All patients who were evaluated at the Sheba Medical Center and received a clinical and/or molecular diagnosis of KS, over a 16-year period (2004-2020), were included. Digital medical records, including ultrasound studies, were reviewed by a team of pediatric nephrologists.; Results: Thirteen patients were included in the study, at ages ranging from the neonatal period to 20 years. In eight patients, a pathogenic variant in KMT2D was established. CAKUT were detected in 8/13 (61.5%) of patients and varied from hypospadias, hydronephrosis, or double collecting systems to pelvic kidney, kidney asymmetry, horseshoe kidney, or kidney agenesis. One patient experienced kidney failure necessitating transplantation at 20 years of age.; Conclusions: Our findings underscore the high prevalence of CAKUT and genitourinary involvement in patients with KS and suggest that assessment by pediatric nephrology specialists is warranted as part of the routine multidisciplinary evaluation of newly diagnosed patients. A higher resolution version of the Graphical abstract is available as Supplementary information.; (© 2021. The Author(s), under exclusive licence to IPNA.) |
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| Contributed Indexing: | Keywords: CAKUT; KMT2D; Kabuki syndrome; Kidney disease; Renal anomalies |
| SCR Disease Name: | Cakut; Kabuki syndrome |
| Entry Date(s): | Date Created: 20210927 Date Completed: 20220204 Latest Revision: 20220512 |
| Update Code: | 20260130 |
| DOI: | 10.1007/s00467-021-05216-3 |
| PMID: | 34570271 |
| Database: | MEDLINE |
Journal Article