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  • S. Karger AG  (2)
  • 2020-2024  (2)
  • 1
    In: Nephron, S. Karger AG, Vol. 145, No. 4 ( 2021), p. 445-450
    Abstract: The 〈 i 〉 MAFB 〈 /i 〉 gene encodes an important basic leucine zipper transcription factor that functions in glomerular podocytes, macrophages, and osteoclasts. Recently, 〈 i 〉 MAFB 〈 /i 〉 was identified as the gene that was responsible for causing nephropathy with focal segmental glomerulosclerosis (FSGS) with multicentric carpotarsal osteolysis (MCTO) or Duane retraction syndrome (DRS). Here, we describe a patient with nephropathy associated with FSGS who exhibited a novel stop-gain variant in the 〈 i 〉 MAFB 〈 /i 〉 gene (NM_005461:c.590C & #x3e;A (p.Ser197Ter)). The patient’s father exhibited proteinuria with FSGS with possible DRS, whereas the patient exhibited nephropathy with FSGS and nearly normal eye movement and hearing function, as well as intact bone structure in the extremities. Conventional oral steroids or immunosuppressive drugs have not demonstrated effectiveness for patients with nephropathy who exhibit pathogenic variants in 〈 i 〉 MAFB 〈 /i 〉 , except for a patient with nephropathy with FSGS and MCTO who experienced attenuated proteinuria within the subnephrotic range in response to cyclosporine A (CyA) treatment for at least 4 years. Thus, we attempted administration of CyA in our patient. Unexpectedly, the patient demonstrated good and rapid responses to CyA, including a partial reduction in proteinuria from approximately 2.0 g/g Cr to proteinuria within the subnephrotic range (0.27 g/g Cr) after 13 months of observation. Our findings suggest that CyA may be a suitable treatment option for patients with nephropathy with FSGS who exhibit pathogenic 〈 i 〉 MAFB 〈 /i 〉 variants.
    Type of Medium: Online Resource
    ISSN: 1660-8151 , 2235-3186
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2021
    detail.hit.zdb_id: 2810853-X
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  • 2
    Online Resource
    Online Resource
    S. Karger AG ; 2022
    In:  Case Reports in Dermatology Vol. 14, No. 3 ( 2022-9-5), p. 258-263
    In: Case Reports in Dermatology, S. Karger AG, Vol. 14, No. 3 ( 2022-9-5), p. 258-263
    Abstract: Pemphigus foliaceus (PF) is one of the causes of erythroderma; however, to date, there have been relatively few reported cases. We herein describe 6 cases of erythrodermic PF. In all 6 cases, PF was a direct cause of erythroderma because the patients had not undergone any medical treatments and neither had any other skin diseases nor were taking any drugs that typically cause erythroderma. Serum levels of IgE and thymus and activation-regulated chemokine were elevated in 5 of the 6 cases, whereas soluble interleukin-2 receptor and squamous cell carcinoma-related antigen were markedly increased in all cases, suggesting that those markers are strong indicators of skin surface damage. All patients were treated with predonisolon (PSL), of which PSL pulse was added in 4 patients and intravenous immunoglobulin was added in 4 patients. Furthermore, all patients except for one were older adults, among whom 2 cases developed Kaposi’s varicelliform eruption, and died, and another 2 patients, respectively, died of gastrointestinal bleeding and sepsis. Kaposi’s varicelliform eruption is a complication of erythrodermic PF associated with poor prognosis, and thus caution is necessary when considering the diagnosis. Furthermore, elderly people are more likely to have complications due to PSL, which may result in death. Inappropriate treatment and delay in treatment may cause erythroderma, so early diagnosis and treatment are necessary.
    Type of Medium: Online Resource
    ISSN: 1662-6567
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2022
    detail.hit.zdb_id: 2505300-0
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