(>40-60% hearing loss), 3 = severe impairment (>60-80% hearing loss), and 4 = profound deafness (>80% hearing loss). Percentages of hearing loss were calculated from the measurements of pure tone audiologic threshold (15).2011 #1837) OL, f/u=11m, (N=12 중) 10명이 hearing loss, 2명: improved, 2명: worsened, 6명: stable.
skin-urticarialr ash (97%): 장지, trunkWas &wane, no permanent damageO(kim 2018) fever and rash disappearedSkin biopsy: massive perivascular neutrophil infiltration (w/o signs of vasculitisPlasma NLRP3 /ASC/ CASP1 IL-1b
organ구분x
Amyloidosis (late complication, AAO=31Y): 4%
??
?
?
Systemic inflammation → amyloidosisPlasma, NLRP3 /ASC/ CASP1 IL-1bHepatomegaly
Splenomegaly
CRF (근데 이젠 이건 아닌 듯, (Finetti, #1826))
systemic-fever (84%), lymphadenopathy, ↑ CRP (all), SAA, ↑ WBC, ↑ ESR (all)(kim 2018) fever and rash disappearedIL-1b → feverPlasama, NLRP3 /ASC/ CASP1 IL-1b
  • Acute-phase reactants (ESR, CRP, SAA, anakinra did), protein
  • Dexa scan every 2-3 y until z scores normalize
Joint/ (주도 knee) musculoskeletalMyalgia, arthralgia: Mild total: (36-79%)patellar overgrowth, joint contractures, bone deformity, bone erosions and osteolytic lesions severe total: 4% (kim 2018에선 33%)

severe: (Welzel, 2021 #1834) 1/3 has disabling.

(Houx, 2015 #1835) n=133 (2/3 was MWS), age=35 y(0-78), majority on anti-IL-1b Tx. Only 9% had joint destruction. Only 3 patients had typical knee deformities
O (↓ mobility & gait)O(Houx, 2015 #1835) Presence of the knee overgrowth specific to CAPS in 3patients led to early IL-1 antagonist therapy, This treatment stabilized but did not reverse the bone deformity, consistent with earlier reports (25,27,36)(Goldbach-Mansky 2011) 아마 inflammation-independent, caspase-1 activation→ NOMID tumor cells have increased cAMP)—dependent protein kinase A (PKA) activity ↑ proto-oncogene (& osteoblast TF) Ets-1 → tummor-like change (no inflammatory cell infiltration)?Radiology (X-ray)

Tx

monoclonal antibodiesinterleukin 1 receptor antagonistsbinding proteins/trapssteroids
(A) CAPS
Canakinumab — 35
Anakinra — 26
Corticosteroids — 4
Rilonacept — 3
Colchicine — 3
Etanercept — 2
NSAIDs — 2
Tocilizumab — 1
Methotrexate — 1
{Kuemmerle-Deschner, 2020 #1825}
canakinumab[10][11]),(such as anakinra[13][14][15][16]),
a recombinant and slightly modified version of the human interleukin 1 receptor antagonist protein,
Anakinra is a protein that differs from the sequence of Interleukin 1 receptor antagonist by one methionine added to its N-terminus; it also differs from the human protein in that it is not glycosylated, as it is manufactured in E coli.[2]
(such as rilonacept[12]),
a dimeric fusion protein consisting of ligand-binding domains of the extracellular portions of the human interleukin-1 receptor component (IL-1R1) and IL-1 receptor accessory protein (IL-1RAcP) linked in-line to the fragment-crystallizable portion (Fc region) of human IgG1 that binds and neutralizes IL-1
size145 kDaa 153 amino acid protein with an approximate molecular weight of 17.3 kDa (smpc 그래도 우리 약의 50배)251 kDa
Brand nameILARISKINERETArcalyst
companyNovartisSwedish Orphan BiovitrumRegeneron,
Price$73,000 a year,
sales$900 million in 2020.$95.4 Million (Y2015)
FDA approval200920012008
Indicationadults and children 4 years of age and older including: FCAS, MWS

others: Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) in adult and pediatric patients. (1.1)

• Hyperimmunoglobulin D Syndrome (HIDS)/Mevalonate Kinase Deficiency (MKD) in adult and pediatric patients (1.1)

• Familial Mediterranean Fever (FMF) in adult and pediatric patients. (1.1)

Active Systemic Juvenile Idiopathic Arthritis (SJIA) in patients aged 2 years and older (1.2)
CAPS
• NOMID
(adult, child 언급 x)

Others: RA
CAPS), including (FCAS) and (MWS) in adults and children 12 and older. (1)
ROASubQSubQSubQ
Dose (FDA)CAPS patients with body weight greater than or equal to 15 kg and less than or equal to 40 kg. For children 15 to 40 kg with an inadequate response, the dose can be increased to 3 mg/kg.starting dose 1 to 2 mg/kg daily, typical maximum dose 8 mg/kgAdult patients 18 yrs and older: Initiate treatment with a loading dose of 320 mg delivered as two, 2-mL, subcutaneous injections of 160 mg on the same day at two different sites. Continue dosing with a once-weekly injection of 160 mg administered as a single, 2-mL, subcutaneous injection. Do not administer ARCALYST more often than once weekly. (2)

• Pediatric patients aged 12 to 17 years: Initiate treatment with a loading dose of 4.4 mg/kg, up to a maximum of 320 mg, delivered as one or two subcutaneous injections with a maximum single-injection volume of 2 mL. Continue dosing with a once-weekly injection of 2.2 mg/kg, up to a maximum of 160 mg, administered as a single subcutaneous injection, up to 2 mL once weekly
Dosing interval 888every 8 weeks. (Daily
BBB{Fox, 2010 #1850}: CSF/serum = 0.28% AUC ratio of 0.28% (iv, rhesus monkey)

{Cavalli, 2018 #1829} The first evidence that anakinra administered peripherally crossed the blood-brain barrier and reduced severity of a disease primarily localized to the central nervous system came from NOMID (Goldbach-Mansky et al., 2006). Specifically, 12 children with NOMID were treated with 1-2 mg/kg of subcutaneous anakinra daily. The median cerebrospinal fluid (CSF) level of IL-1Ra (was 211 pg/mL before treatment, but rose to 1136 pg/mL after 3 months of treatment (Goldbach-Mansky et al., 2006). These effects were associated with a remarkable decrease in the severity of various NOMID manifestations, including elevated intracranial pressure, leptomeningitis, and neurosensorial hearing loss, as well as reduced CSF levels of IL-6.

IL-1RA is the naturally occurring antagonist of IL-1
Tx response(kim 2018) fever and rash disappeared, and the blood test results showed improvement in the CRP and ESR.

Uncertain Spans

locationtranscriptionuncertainty
Tx (A) CAPS bar chartnumeric label “Anakinra — 26”The number is partially obscured; reads as 26 but could be 28 in the photo.
organ row, hepatic note”CRF (근데 이젠 이건 아닌 듯, (Finetti, #1826))“Korean tail and citation key are partly faded; preserved as legible.
Joint row, Houx 2015 inset”Only 9% had joint destruction” vs alternative readingNumeric percent is small; “9%” is the best legible value.
Tx response row inline figuresmall multi-panel kinetics chartPanels are too small to identify axes/labels; left as evidence.