Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center
Introduction. Primary hyperoxaluria type 1 (PH1) is a rare and inherited condition of urolithiasis. The aim of our study was to analyze clinical, paraclinical, and evolutionary aspects of PH1 in adult patients in our Nephrology department. Methods. We conducted a retrospective single-center study be...
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| Format: | Article |
| Language: | English |
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Wiley
2023-01-01
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| Series: | International Journal of Nephrology |
| Online Access: | http://dx.doi.org/10.1155/2023/2874414 |
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| author | Hajji Meriam Asma Bettaieb Hayet Kaaroud Fethi Ben Hamida Taher Gargeh Ridha Mrad Kahena Bouzid Ezzeddine Abderrahim |
| author_facet | Hajji Meriam Asma Bettaieb Hayet Kaaroud Fethi Ben Hamida Taher Gargeh Ridha Mrad Kahena Bouzid Ezzeddine Abderrahim |
| author_sort | Hajji Meriam |
| collection | DOAJ |
| description | Introduction. Primary hyperoxaluria type 1 (PH1) is a rare and inherited condition of urolithiasis. The aim of our study was to analyze clinical, paraclinical, and evolutionary aspects of PH1 in adult patients in our Nephrology department. Methods. We conducted a retrospective single-center study between 1990 and 2021. We collected patients followed for PH1 confirmed by genetic study and/or histopathological features of renal biopsy and morphoconstitutional analysis of the calculi. Results. There were 25 patients with a gender ratio of 1.78. The median age at onset of symptoms was 18 years. A delay in diagnosis more than 10 years was noted in 13 cases. The genetic study found the I244T mutation in 17 cases and 33-34 InsC in 4 cases. A kidney biopsy was performed in 5 cases, on a native kidney in 4 cases and on a graft biopsy in one case. The analysis of calculi was done in 10 cases showing type Ic in 2 cases. After a median follow-up of 13 years (1 year–42 years), 14 patients progressed to end-stage chronic renal failure (ESRD). The univariate study demonstrated a remarkable association with progression to ESRD in our population (44% vs. 56%) RR = 13.32 (adjusted ORs (95% CI): 2.82–62.79) (p<0.01). Conclusion. Progression to ESRD was frequent in our series. Early diagnosis and adequate management can delay such an evolution. |
| format | Article |
| id | doaj-art-18c3e0db8544427081d5656a45b72f24 |
| institution | Kabale University |
| issn | 2090-2158 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Nephrology |
| spelling | doaj-art-18c3e0db8544427081d5656a45b72f242025-02-03T06:48:31ZengWileyInternational Journal of Nephrology2090-21582023-01-01202310.1155/2023/2874414Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology CenterHajji Meriam0Asma Bettaieb1Hayet Kaaroud2Fethi Ben Hamida3Taher Gargeh4Ridha Mrad5Kahena Bouzid6Ezzeddine Abderrahim7Department of Medicine AFaculty of Medicine of TunisDepartment of Medicine ADepartment of Medicine ADepartment of PediatricsDepartment of GeneticsDepartment of BiochemistryDepartment of Medicine AIntroduction. Primary hyperoxaluria type 1 (PH1) is a rare and inherited condition of urolithiasis. The aim of our study was to analyze clinical, paraclinical, and evolutionary aspects of PH1 in adult patients in our Nephrology department. Methods. We conducted a retrospective single-center study between 1990 and 2021. We collected patients followed for PH1 confirmed by genetic study and/or histopathological features of renal biopsy and morphoconstitutional analysis of the calculi. Results. There were 25 patients with a gender ratio of 1.78. The median age at onset of symptoms was 18 years. A delay in diagnosis more than 10 years was noted in 13 cases. The genetic study found the I244T mutation in 17 cases and 33-34 InsC in 4 cases. A kidney biopsy was performed in 5 cases, on a native kidney in 4 cases and on a graft biopsy in one case. The analysis of calculi was done in 10 cases showing type Ic in 2 cases. After a median follow-up of 13 years (1 year–42 years), 14 patients progressed to end-stage chronic renal failure (ESRD). The univariate study demonstrated a remarkable association with progression to ESRD in our population (44% vs. 56%) RR = 13.32 (adjusted ORs (95% CI): 2.82–62.79) (p<0.01). Conclusion. Progression to ESRD was frequent in our series. Early diagnosis and adequate management can delay such an evolution.http://dx.doi.org/10.1155/2023/2874414 |
| spellingShingle | Hajji Meriam Asma Bettaieb Hayet Kaaroud Fethi Ben Hamida Taher Gargeh Ridha Mrad Kahena Bouzid Ezzeddine Abderrahim Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center International Journal of Nephrology |
| title | Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center |
| title_full | Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center |
| title_fullStr | Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center |
| title_full_unstemmed | Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center |
| title_short | Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center |
| title_sort | primary hyperoxaluria type 1 clinical paraclinical and evolutionary aspects in adults from one nephrology center |
| url | http://dx.doi.org/10.1155/2023/2874414 |
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