Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.

Autor: Di Candia F; Pediatric Unit, Translational Medicine Department, Federico II University Hospital, Naples, Italy., Fontana P; Medical Genetics Unit, San Pio Hospital, Benevento, Italy., Paglia P; Pediatric Unit, Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', (Salerno), Baronissi, Italy., Falco M; Pediatric Unit, San Giovanni di Dio e Ruggi d'Aragona University Hospital, Via San Leonardo, 1 - 84131, Salerno, Italy., Rosano C; Pediatric Unit, Translational Medicine Department, Federico II University Hospital, Naples, Italy., Piscopo C; Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy., Cappuccio G; Pediatric Unit, Translational Medicine Department, Federico II University Hospital, Naples, Italy., Siano MA; Pediatric Unit, Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', (Salerno), Baronissi, Italy., De Brasi D; Department of Pediatrics, AORN Santobono-Pausilipon, Napoli, Italy., Mandato C; Department of Pediatrics, AORN Santobono-Pausilipon, Napoli, Italy., De Maggio I; Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy., Squeo GM; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Monica MD; Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy., Scarano G; Medical Genetics Unit, San Pio Hospital, Benevento, Italy., Lonardo F; Medical Genetics Unit, San Pio Hospital, Benevento, Italy., Strisciuglio P; Pediatric Unit, Translational Medicine Department, Federico II University Hospital, Naples, Italy., Merla G; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Melis D; Pediatric Unit, Translational Medicine Department, Federico II University Hospital, Naples, Italy. dmelis@unisa.it.; Pediatric Unit, Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', (Salerno), Baronissi, Italy. dmelis@unisa.it.; Pediatric Unit, San Giovanni di Dio e Ruggi d'Aragona University Hospital, Via San Leonardo, 1 - 84131, Salerno, Italy. dmelis@unisa.it.
Jazyk: angličtina
Zdroj: European journal of pediatrics [Eur J Pediatr] 2022 Jan; Vol. 181 (1), pp. 171-187. Date of Electronic Publication: 2021 Jul 07.
DOI: 10.1007/s00431-021-04108-w
Abstrakt: Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability. The syndrome is caused by KMT2D gene mutations or less frequently KDM6A gene mutations or deletions. We report a systematic evaluation of KS patients from Campania region of Italy; data were also compared with literature ones. We collected data of 15 subjects (8 males and 7 females with age range 10-26 years; mean age 16.9 years) with confirmed diagnosis of KS, representing the entire cohort of patients from Campania Region. Each patient performed biochemical testing and instrumental investigation. Neuro-intellectual development, cranio-facial dysmorphisms, and multisystem involvement data were collected retrospectively. For each category, type of defects and frequency of the anomalies were analyzed. Our observation shows that KS patients from Campania region have some particular and previously underscored, neurological and immunological findings. We found high prevalence of EEG's abnormalities (43%) and MRI brain abnormalities (60%). Microcephaly resulted more common in our series (33%), if compared with major cohorts described in literature. Biochemical features of immunodeficiency and autoimmune diseases including thyroid autoimmunity, polyserositis, and vitiligo were observed with high prevalence (54.5%). Low immunoglobulins levels were a frequent finding. Lymphocyte class investigation showed significantly reduced CD8 levels in one patient.Conclusions: These data confirm great heterogeneity of clinical manifestations in KS and suggest to introduce further clinical diagnostic criteria in order to perform a correct and precocious diagnosis. What is Known • Kabuki syndrome is characterized by growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability • Immune dysfunction is a common finding but autoimmune diseases are rarely seen • Neurological features are common What is New • Some particular facial features could help gestalt diagnosis (hypertelorism, broad nasal bridge, micrognathia, tooth agenesis, cutaneous haemangiomas and strabismus) • Higher prevalence of autoimmune disorders than previously reported • Particular neurological features are present in this cohort (EEG and MRI brain abnormalities).
(© 2021. The Author(s).)
Databáze: MEDLINE
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