原发性高草酸尿1型:成人的临床、临床旁和进化方面

IF 1.7 Q3 UROLOGY & NEPHROLOGY
Hajji Meriam, Asma Bettaieb, Hayet Kaaroud, Fethi Ben Hamida, Taher Gargeh, Ridha Mrad, Kahena Bouzid, Ezzeddine Abderrahim
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引用次数: 1

摘要

原发性高草酸尿1型(PH1)是一种罕见的遗传性尿石症。我们研究的目的是分析我们肾脏病科成年患者PH1的临床、临床旁和进化方面。方法:我们在1990年至2021年间进行了一项回顾性单中心研究。我们收集了经遗传研究和/或肾活检组织病理学特征和结石形态结构分析证实的PH1患者。结果:25例患者,性别比为1.78。出现症状的中位年龄为18岁。13例延误诊断超过10年。遗传研究发现17例患者有I244T突变,4例患者有33-34 InsC突变。5例进行了肾活检,4例进行了原生肾活检,1例进行了移植肾活检。结石分析10例,2例为Ic型。中位随访13年(1 -42年)后,14例患者进展为终末期慢性肾功能衰竭(ESRD)。单因素研究显示,在我们的人群中,与ESRD进展有显著关联(44% vs. 56%) RR = 13.32(调整后的or (95% CI): 2.82-62.79) (p < 0.01)。结论:在我们的研究中,进展为ESRD是很常见的。早期诊断和适当的管理可以延缓这种演变。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center.

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 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.

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来源期刊
International Journal of Nephrology
International Journal of Nephrology UROLOGY & NEPHROLOGY-
CiteScore
3.40
自引率
4.80%
发文量
44
审稿时长
17 weeks
期刊介绍: International Journal of Nephrology is a peer-reviewed, Open Access journal that publishes original research articles, review articles, and clinical studies focusing on the prevention, diagnosis, and management of kidney diseases and associated disorders. The journal welcomes submissions related to cell biology, developmental biology, genetics, immunology, pathology, pathophysiology of renal disease and progression, clinical nephrology, dialysis, and transplantation.
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