Refractory ITP in a patient with Kabuki syndrome: response to low-dose rituximab

Kerr, B; Murphy, Philip; Quinn, John

doi:10.1007/s12185-016-2176-y

Cited by 3 publications

(5 citation statements)

References 11 publications

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“…Rare cases of other anomalies including ureteric and renal duplication, ectopic kidneys, renal agenesis, hypoplastic labia are reported [ 40 , 87 , 108 , 109 ]. Renal dysfunction and failure are rare, occurring in a few isolated cases [ 97 , 106 , 110 , 111 , 112 ]. Most cases of severe renal insufficiency are secondary to congenital renal dysplasia.…”

Section: Resultsmentioning

confidence: 99%

From Genotype to Phenotype—A Review of Kabuki Syndrome

Barry

Tsaparlis

Hoffman

et al. 2022

Genes

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Kabuki syndrome (KS) is a rare neuro-developmental disorder caused by variants in genes of histone modification, including KMT2D and KDM6A. This review assesses our current understanding of KS, which was originally named Niikawa–Kuroki syndrome, and aims to guide surveillance and medical care of affected individuals as well as identify gaps in knowledge and unmet patient needs. Ovid MEDLINE and EMBASE databases were searched from 1981 to 2021 to identify reports related to genotype and systems-based phenotype characterization of KS. A total of 2418 articles were retrieved, and 152 were included in this review, representing a total of 1369 individuals with KS. Genotype, phenotype, and the developmental and behavioral profile of KS are reviewed. There is a continuous clinical phenotype spectrum associated with KS with notable variability between affected individuals and an emerging genotype–phenotype correlation. The observed clinical variability may be attributable to differences in genotypes and/or unknown genetic and epigenetic factors. Clinical management is symptom oriented, fragmented, and lacks established clinical care standards. Additional research should focus on enhancing understanding of the burden of illness, the impact on quality of life, the adult phenotype, life expectancy and development of standard-of-care guidelines.

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Section: Resultsmentioning

confidence: 99%

From Genotype to Phenotype—A Review of Kabuki Syndrome

Barry

Tsaparlis

Hoffman

et al. 2022

Genes

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“…15 In a young adult with cITP and KS, CR was maintained for 3 years with an association including four low-dose 100 mg weekly doses. 33 In adults and children >40 kg, guidelines now recommend two 1 g doses D1-D15. 34 If rituximab tends to be efficient in KS ITP, a consensual dosage should be determined with adequate anti-infectious preventive measures.…”

Section: Discussionmentioning

confidence: 99%

“…In a 5‐year‐old patient with cITP and KS, CR was maintained for 2 years after four monthly 375 mg/m 2 doses 15 . In a young adult with cITP and KS, CR was maintained for 3 years with an association including four low‐dose 100 mg weekly doses 33 . In adults and children >40 kg, guidelines now recommend two 1 g doses D1‐D15 34 .…”

Section: Discussionmentioning

confidence: 99%

Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients

Bianchi,

Margot,

Fernandes

et al. 2024

Br J Haematol

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SummaryKabuki syndrome (KS) is now listed in the Human Inborn Errors of Immunity (IEI) Classification. It is a rare disease caused by KMT2D and KDM6A variants, dominated by intellectual disability and characteristic facial features. Recurrently, pathogenic variants are identified in those genes in patients examined for autoimmune cytopenia (AIC), but interpretation remains challenging. This study aims to describe the genetic diagnosis and the clinical management of patients with paediatric‐onset AIC and KS. Among 11 patients with AIC and KS, all had chronic immune thrombocytopenic purpura, and seven had Evans syndrome. All had other associated immunopathological manifestations, mainly symptomatic hypogammaglobinaemia. They had a median of 8 (5–10) KS‐associated manifestations. Pathogenic variants were detected in KMT2D gene without clustering, during the immunological work‐up of AIC in three cases, and the clinical strategy to validate them is emphasized. Eight patients received second‐line treatments, mainly rituximab and mycophenolate mofetil. With a median follow‐up of 17 (2–31) years, 8/10 alive patients still needed treatment for AIC. First‐line paediatricians should be able to recognize and confirm KS in children with ITP or multiple AIC, to provide early appropriate clinical management and specific long‐term follow‐up. The epigenetic immune dysregulation in KS opens exciting new perspectives.

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“…However, Torii et al ( 15 ) explained that splenectomy should be avoided for patients with Kabuki syndrome because they are more susceptible to infection throughout life. Furthermore, rituximab is recommended as an alternative option in refractory ITP associated with Kabuki syndrome ( 14 , 15 ). Nevertheless, we decided to perform laparoscopic splenectomy to improve our patients' abdominal symptoms associated with splenomegaly as well as curative treatment for recurrent ITP and exclusion of splenic malignant lymphoma.…”

Section: Discussionmentioning

confidence: 99%

“…Based on the current guidelines, immunosuppression with corticosteroids is the primary treatment for these diseases ( 13 ). However, the immune dysregulation associated with Kabuki syndrome can confer difficulties for second-line treatments against these complications, especially surgical procedures such as splenectomy ( 14 , 15 ). Meanwhile, in CVID patients, when splenectomy was performed for refractory autoimmune cytopenia and suspected lymphoma, overall mortality was reported as 1.6% per patient year ( 16 ).…”

Section: Introductionmentioning

confidence: 99%

Progressive Massive Splenomegaly in an Adult Patient with Kabuki Syndrome Complicated with Immune Thrombocytopenic Purpura

et al. 2021

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Kabuki syndrome is characterized by multiple systemic anomalies and intellectual disability. It is complicated with immunodeficiencies and autoimmune disorders. The syndrome is caused by a mutation in the KMT2D gene. We herein report a case of a Kabuki syndrome with developing immune thrombocytopenic purpura (ITP) and progressive splenomegaly. Laparoscopic splenectomy was performed and the patients' symptoms quickly disappeared with platelet recovery. After this operation, the patient had no severe complications. A sequence analysis of the KMT2D gene identified a pathogenic mutation frequently associated with ITP. Laparoscopic splenectomy is therefore considered to be a good therapeutic option for recurrent ITP and symptomatic splenomegaly with Kabuki syndrome.

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Refractory ITP in a patient with Kabuki syndrome: response to low-dose rituximab

Cited by 3 publications

References 11 publications

From Genotype to Phenotype—A Review of Kabuki Syndrome

From Genotype to Phenotype—A Review of Kabuki Syndrome

Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients

Progressive Massive Splenomegaly in an Adult Patient with Kabuki Syndrome Complicated with Immune Thrombocytopenic Purpura

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