Mevalonate Kinase Deficiency (MKD)/Hyperimmunoglobulin D Syndrome (HIDS)

Petryna, Olga; Purat, Neha

doi:10.1007/978-3-319-96929-9_2

Cited by 1 publication

(4 citation statements)

References 33 publications

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“…Whereas before the discovery of the MVK gene as the cause of HIDS, the presence of high serum IgD levels was necessary for the diagnosis of HIDS 10 . Today, the importance of increased IgD without genetic or biochemical findings remains uncertain 9 …”

Section: Introductionmentioning

confidence: 99%

“… 10 Today, the importance of increased IgD without genetic or biochemical findings remains uncertain. 9 …”

Section: Introductionmentioning

confidence: 99%

“…8 According to our current knowledge of the genetics and pathophysiology of HIDS, the diagnosis can be made in a patient with frequent episodes of fever and the usual findings associated with recording mutations in MVK or high levels of mevalonic acid, a substrate of mevalonate kinase, in the urine of patients during attacks. 9 Whereas before the discovery of the MVK gene as the cause of HIDS, the presence of high serum IgD levels was necessary for the diagnosis of HIDS. 10 Today, the importance of increased IgD without genetic or biochemical findings remains uncertain.…”

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confidence: 99%

“…10 Today, the importance of increased IgD without genetic or biochemical findings remains uncertain. 9 Early diagnosis and treatment of HIDS patients is momentous, because it prevents irreversible organ damage and improves the quality of life of patients. 11 Management of HIDS focuses primarily on symptomatic relief of febrile episodes and prevention of complications.…”

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confidence: 99%

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A case report of Hyper‐IgD syndrome in a 5‐year‐old girl with recurrent fever, skin rash, and arthralgia; novel MVK mutation (C.298G>A)

Tabibi,

Shiari,

Ghotb Abadi

2024

Clinical Case Reports

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Key Clinical MessageThis case highlights the potential for later‐onset Hyper‐IgD syndrome (HIDS) even beyond infancy. Clinicians evaluating children with recurrent fever, skin rash, and arthralgia should consider HIDS in the differential diagnosis, regardless of age. Early suspicion and genetic testing can lead to a timely diagnosis and targeted therapy with Anakinra, significantly improving patient outcomes.AbstractHyper‐IgD syndrome (HIDS) is a rare autosomal recessive autoinflammatory disorder characterized by recurrent episodes of fever, lymphadenopathy, arthralgia, diarrhea, abdominal pain, and skin rash. In this case report, we present a 5‐year‐old girl from Tajikistan with a mutation in the mevalonate kinase (MVK) gene, which is consistent with a diagnosis of HIDS. The clinical symptoms of the patient are described, along with immunological, hematological, and biochemical findings collected from the evaluation in the rheumatology clinic. Additionally, whole‐exome sequencing revealed a heterozygous missense variation in exon 4 of the MVK gene. The diagnosis of HIDS in this case occurred at a later age than typically observed, emphasizing the importance of considering this condition even in older patients. This report highlights the broad clinical phenotype of MVK and the need for increased awareness among healthcare professionals regarding its clinical presentation and management.

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Section: Introductionmentioning

confidence: 99%

“… 10 Today, the importance of increased IgD without genetic or biochemical findings remains uncertain. 9 …”

Section: Introductionmentioning

confidence: 99%

mentioning

confidence: 99%

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confidence: 99%

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