scholarly journals Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease

2019 ◽  
Vol 8 (10) ◽  
pp. 1662 ◽  
Author(s):  
Dinur ◽  
Zimran ◽  
Becker-Cohen ◽  
Arkadir ◽  
Cozma ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Substrate Reduction Therapy ◽  
Type I ◽  
Specific Therapy ◽  
Substrate Reduction ◽  
Long Term Follow Up ◽  
Disease Specific

The introduction of disease-specific therapy for patients with type I Gaucher disease (GD1) was a revolution in the management of patients, but not without cost. Thus, the management of mildly affected patients is still debated. We herein report a long-term follow-up (median (range) of 20 (5–58) years) of 103 GD1 patients who have never received enzymatic or substrate reduction therapy. The median (range) platelet count and hemoglobin levels in last assessment of all but six patients who refused therapy (although recommended and approved) were 152 (56–408) × 103/mL and 13.1 (7.6–16.8) g/dL, respectively. Most patients had mild hepatosplenomegaly. Nine patients were splenectomized. No patient developed clinical bone disease. The median (range) lyso-Gb1 levels at last visit was 108.5 (8.1–711) ng/mL; lowest for patients with R496H/other and highest for patients refusing therapy. This rather large cohort with long follow-up confirms that mildly affected patients may remain stable for many years without GD-specific therapy. The challenge for the future, when newborn screening may detect all patients, is to be able to predict which of the early diagnosed patients is at risk for disease-related complications and therefore for early treatment, and who may remain asymptomatic or minimally affected with no need for disease-specific therapy.

Long-term follow-up of 103 untreated adult patients with type 1 Gaucher disease

2019 ◽  
Vol 126 (2) ◽  
pp. S49
Author(s):  
Tama Dinur ◽  
Ari Zimran ◽  
Michal Becker Cohen ◽  
David Arkadir ◽  
Claudia Cozma ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Adult Patients ◽  
Long Term Follow Up ◽  
Type 1 Gaucher Disease

scholarly journals Gaucher disease and the clinical experience with substrate reduction therapy

2003 ◽  
Vol 358 (1433) ◽  
pp. 961-966 ◽  
Author(s):  
Ari Zimran ◽  
Deborah Elstein
Keyword(s):  
Side Effects ◽  
Gaucher Disease ◽  
Substrate Reduction Therapy ◽  
Enzyme Treatment ◽  
Type I ◽  
Enzyme Therapy ◽  
Adult Type ◽  
Enzyme Replacement ◽  
Substrate Reduction

Gaucher disease is caused by an enzymatic defect with consequent accumulation of glucocerebroside. Type I, the non–neuronopathic form, is rather common and panethnic. Patients may present with hepatosplenomegaly, anaemia, thrombocytopenia and skeletal or lung involvement. Enzyme replacement therapy ameliorates disease symptoms and signs; however, it involves lifelong intravenous therapy, is costly and is incapable of crossing the blood–brain barrier. Substrate reduction with N –butyldeoxynojirimycin (OGT 918) is a harbinger of oral iminosugars for glycolipid storage disorders. Long–term data in the seminal trial (100 mg three times per day), demonstrate safety and efficacy in adult type I patients naive to enzyme therapy, and suggest its application in patients unwilling or unable to receive enzyme replacement and tolerating side effects, including diarrhoea, weight loss, tremor and peripheral neuropathy (mostly reversible with dose reduction or withdrawal). Dose dependency was demonstrated with 50 mg three times per day. In patients stabilized on enzyme therapy switched from or in combination with enzyme, no deterioration in disease parameters was seen but side effects were as above. Although efficacy is less dramatic than enzyme treatment, it may be that plateaux are achieved asymptotically so therapeutic outcomes with OGT 918 may ultimately be comparable. Yet, given the above side effects and the lack of long–term experience, patients with very mild manifestations would probably not be appropriate candidates.

scholarly journals A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management

2021 ◽  
Author(s):  
Marco Pavanello ◽  
Pietro Fiaschi ◽  
Andrea Accogli ◽  
Mariasavina Severino ◽  
Domenico Tortora ◽  
...  
Keyword(s):  
Surgical Management ◽  
Missense Variant ◽  
Morning Glory ◽  
Morning Glory Disc Anomaly ◽  
Long Term Follow Up ◽  
Indirect Revascularization ◽  
Peripapillary Retina

AbstractMorning glory disc anomaly is a congenital abnormality of the optic disc and peripapillary retina reported as an isolated condition or associated with various anomalies, including basal encephaloceles and moyamoya vasculopathy. However, the co-occurrence of these three entities is extremely rare and the pathogenesis is still poorly understood. Moreover, data on the surgical management and long-term follow-up of the intracranial anomalies are scarce. Here, we describe the case of a 11-year-old boy with morning glory disc anomaly, transsphenoidal cephalocele, and moyamoya vasculopathy, who underwent bilateral indirect revascularization with encephalo-duro-myo-arterio-pericranio-synangiosis at the age of 2 years, and endoscopic repair of the transsphenoidal cephalocele at the age of 6 years. A rare missense variant (c.1081T>C,p.Tyr361His) was found in OFD1, a gene responsible for a X-linked ciliopathy, the oral-facial-digital syndrome type 1 (OFD1; OMIM 311200). This case expands the complex phenotype of OFD1 syndrome and suggests a possible involvement of OFD1 gene and Shh pathway in the pathogenesis of these anomalies.

A long term view of myringoplasty in children

1990 ◽  
Vol 104 (10) ◽  
pp. 758-762 ◽  
Author(s):  
J. D. Blanshard ◽  
A. K. Robson ◽  
I. Smith ◽  
A. R. Maw
Keyword(s):  
Success Rate ◽  
Significant Influence ◽  
Hearing Gain ◽  
Graft Take ◽  
Late Failure ◽  
Special Clinic ◽  
Long Term Follow Up

AbstractFifty-nine type 1 tympanoplasties in children under 14 years of age were assessed by recall to a special follow-up clinic up to 15 years post-operatively. Overall 78 per cent of tympanic membranes were found to be intact with a late failure of grafts noted in 6 per cent of cases. An improvement in the audiological threshold was found in 51 per cent, 24 per cent were unchanged, the remaining 25 per cent suffered a deterioration which was seen both immediately post-operatively and thereafter until reviewed in the special clinic. The age at operation, size of the perforation, grade of surgeon carrying out the operation and prior adenoidectomy had no statistically significant influence on the success rate or the audiologicaloutcome. Revision procedures achieved similar graft take rates to the initial procedures but fared worse audiologically. We conclude that in the majority the operation was successful but hearing gain was not as good as expected and subject to late deterioration. A long term follow-up is important to detect this and other complications.

scholarly journals Long-term follow-up of patients with Bartter syndrome type I and II

2010 ◽  
Vol 25 (9) ◽  
pp. 2976-2981 ◽  
Author(s):  
E. Puricelli ◽  
A. Bettinelli ◽  
N. Borsa ◽  
F. Sironi ◽  
C. Mattiello ◽  
...  
Keyword(s):  
Bartter Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Long Term Follow Up
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