Cutoff-Werte der ARFI (Acoustic Radiation Force Impulse) Elastometrie zur Bestimmung des Grades der Leberfibrose in Patienten mit chronischen Lebererkrankungen

Sturm, J.; Görtz, RS; Pfeifer, Lukas; Wachter, DL; Neurath, MF; Strobel, D

doi:10.1055/s-0032-1323907

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“… cMRI = cranial magnetic resonance imaging; OCT = optical coherence tomography; ARFI = acoustic radiation force impulse elastography [ 34 , 35 ]; LFS = Ludwig fibrosis score (0–4) [ 33 , 35 , 36 ]; US = abdominal ultrasound investigation; HCC = hepatocellular carcinoma; WD = Wilson’s disease. …”

Section: Figurementioning

confidence: 99%

“…There were slight differences betwee the OCT parameters of the two patients, but they were still in the normal range in com parison with normal control (Table 2). cMRI = cranial magnetic resonance imaging; OCT = optical coherence tomography; ARFI = acous tic radiation force impulse elastography [34,35]; LFS = Ludwig fibrosis score (0-4) [33,35,36]; US = abdominal ultrasound investigation; HCC = hepatocellular carcinoma; WD = Wilson's disease.…”

Section: Cmri- Oct- Arfi- Us-investigation and Meld-scores In Sister ...mentioning

confidence: 99%

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Different Response Behavior to Therapeutic Approaches in Homozygotic Wilson’s Disease Twins with Clinical Phenotypic Variability: Case Report and Literature Review

Samadzadeh

Kruschel

Novak

et al. 2022

Genes

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Background: Wilson’s disease (WD) is an autosomal-recessive disorder of copper deposition caused by pathogenic variants in the copper-transporting ATP7B gene. There is not a clear correlation between genotype and phenotype in WD regarding symptom manifestations. This is supported by the presentation of genetically identical WD twins with phenotypic discordance and different response behavior to WD-specific therapy. Case Presentation: One of the female homozygous twins (age: 26 yrs) developed writing, speaking, swallowing and walking deficits which led to in-patient examination without conclusive results but recommended genetic testing. Both sisters were tested and were heterozygous for the C.2304dupC;p(Met769Hisf*26) and the C.3207C>A;p(His1069Gln) mutation. Self-medication of the affected sibling with 450 mg D-penicillamine (DPA) did not prevent further deterioration. She developed a juvenile parkinsonian syndrome and became wheelchair-bound and anarthric. A percutaneous endoscopic gastrostomy was applied. Her asymptomatic sister helped her with her daily life. Despite the immediate increase of the DPA dose (up to 1800 mg within 3 weeks) in the severely affected patient and the initiation of DPA therapy (up to 600 mg within 2 weeks) in the asymptomatic patient after the first visit in our institution, liver function tests further deteriorated in both patients. After 2 months, the parkinsonian patient started to improve and walk again, but experienced several falls, broke her right shoulder and underwent two necessary surgical interventions. With further consequent copper elimination therapy, liver dysfunction improved in both patients, without need for orthotopic liver transplantation (LTX) in the severely affected patient. Her excellent recovery of liver and brain dysfunction was only transiently interrupted by the development of a nephrotic syndrome which disappeared after switching to Cuprior®. Unfortunately, she died from fulminant pneumonia. Conclusion: Despite identical genetic disposition, WD symptom presentations may develop differently in monozygotic twins, and they may need to be placed on a very different therapeutical regimen. The underlying gene-environment interaction is unclear so far.

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Section: Figurementioning

confidence: 99%

Section: Cmri- Oct- Arfi- Us-investigation and Meld-scores In Sister ...mentioning

confidence: 99%

Different Response Behavior to Therapeutic Approaches in Homozygotic Wilson’s Disease Twins with Clinical Phenotypic Variability: Case Report and Literature Review

Samadzadeh

Kruschel

Novak

et al. 2022

Genes

View full text Add to dashboard Cite

show abstract

Cutoff-Werte der ARFI (Acoustic Radiation Force Impulse) Elastometrie zur Bestimmung des Grades der Leberfibrose in Patienten mit chronischen Lebererkrankungen

Cited by 1 publication

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Different Response Behavior to Therapeutic Approaches in Homozygotic Wilson’s Disease Twins with Clinical Phenotypic Variability: Case Report and Literature Review

Different Response Behavior to Therapeutic Approaches in Homozygotic Wilson’s Disease Twins with Clinical Phenotypic Variability: Case Report and Literature Review

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