Primary hyperoxaluria type 1: report of the worldwide largest family

2021 ◽  
Author(s):  
Ikram Agrebi ◽  
Houda Kanoun ◽  
Khaoula Kammoun ◽  
Soumaya Yaich ◽  
Mouna Turki ◽  
...  
Keyword(s):  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Hyperoxaluria Type

Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing

2019 ◽  
pp. 28-39
Author(s):  
Kimberly Coughlan ◽  
Rajanikanth Maganti ◽  
Andrea Frassetto ◽  
Christine DeAntonis ◽  
Meredith Wolfrom ◽  
...  
Keyword(s):  
Mouse Model ◽  
Gene Editing ◽  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Hyperoxaluria Type

scholarly journals POS-111 I244T MUTATION IN PRIMARY HYPEROXALURIA TYPE 1: A MUTATION WITH ATYPICAL COURSE

2021 ◽  
Vol 6 (4) ◽  
pp. S46
Author(s):  
R. DAHMANE ◽  
S. Mrabet ◽  
N. Thabet ◽  
D. Zallema ◽  
W. Sahtout ◽  
...  
Keyword(s):  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Hyperoxaluria Type

scholarly journals Clinical experience of using denosumab in the treatment of hypercalcemia and oxalate osteopathy for a young patient with primary hyperoxaluria type 1.

2021 ◽  
Vol 23 (3) ◽  
pp. 24-32
Author(s):  
Olga O. Golounina ◽  
Liudmila Ya. Rozhinskaya ◽  
Tatiana A. Grebennikova ◽  
Liliya D. Kovalevich ◽  
Sofya A. Gronskaia ◽  
...  
Keyword(s):  
Clinical Performance ◽  
Genetic Diseases ◽  
Human Monoclonal Antibody ◽  
Clinical Manifestations ◽  
Primary Hyperoxaluria ◽  
Young Male ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Hyperoxaluria Type

Primary hyperoxaluria are a group of rare genetic diseases caused by defective glyoxylate metabolism leading to excessive oxalate production and deposition into the tissues (oxalosis). Clinical manifestations include recurrent nephrolithiasis and nephrocalcinosis, rapidly progressive chronic kidney disease subsequently leading to end-stage renal disease, systemic oxalosis, PTH-independent hypercalcemia, pancytopenia, oxalate osteopathy with osteosclerosis, pathological fractures and endocrinopathy. Regardless of the type of primary hyperoxaluria any conservative therapy is palliative and can only slow the progression of the disease but not prevent it completely. We report the case of a young male patient with genetically confirmed primary hyperoxaluria type 1 complicated by severe oxalate osteopathy and hypercalcemia, who received a combined liver/ kidney transplant after 10 years from the disease. Treatment with human monoclonal antibody to the receptor activator of nuclear factor kappa B ligand (RANKL) — denosumab allowed achieving normalization of calcium-phosphorus metabolism, significantly reduce the activity of bone resorption and improve clinical performance. Knowledge of the features of clinical manifestations, timely diagnosis and treatment of primary hyperoxaluria are important prognostic value for patients.

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