Introduction: Primary hyperoxaluria type 1 (HP1) is a rare lithiasis with systemic involvement, due to the accumulation of calcium oxalate crystals. In the absence of therapeutic management, it progresses to end-stage...Introduction: Primary hyperoxaluria type 1 (HP1) is a rare lithiasis with systemic involvement, due to the accumulation of calcium oxalate crystals. In the absence of therapeutic management, it progresses to end-stage chronic renal failure. The aim of this study is to describe and analyse the observations of our patients with HP1. Patients and methods: This is a retrospective study carried out between 2014 and 2023 in the Nephrology-Dialysis Transplant Department of the Ibn Sina University Hospital in Rabat. The clinical, paraclinical and evolutionary elements were taken from the patients’ medical records. Results: We collected 11 cases, with a mean age of 27 ± 8.5 years and a M/F sex ratio of 1.7. The diagnosis of HP1 was made on the basis of genetic analysis in 8 patients, morphological and spectro-photometric analysis of the calculus in one patient, biopsy of the graft in one patient and crystalluria and a family history of PH1 in one patient. Two patients died, and 8 patients were on chronic haemdialysis with systemic damage. Only one patient maintained a stable GFR at 60 ml/min. Conclusion: Early diagnosis combined with conservative treatment is the only way to limit the rapid progression of this disease. This requires awareness and collaboration between nephrologists, urologists and biologists within a specialised team.展开更多
Medullary Nephrocalcinosis (MNC) is defined as calcium deposition in tubular basement membrane and interstitium of the kidney medulla. It is 20 times more common than cortical one. In this case report, we present a 12...Medullary Nephrocalcinosis (MNC) is defined as calcium deposition in tubular basement membrane and interstitium of the kidney medulla. It is 20 times more common than cortical one. In this case report, we present a 12-year-boy who presented with persistent nocturnal enuresis for 8 years. Physical examination and routine tests were normal except for microscopic hematuria. Renal ultrasound showed extensive MNC. Twenty-four-hour urine collection revealed normal mineral metabolic screen with low urinary excretion of calcium, phosphorous, magnesium and uric acid yet high for oxalates. Hence, and based on the above-mentioned data, certain metabolic disorders were ruled out: 1) hyperparathyroidism, 2) excessive intake of vitamin D, 3) hypercalcemia, 4) hypercalciuria, 5) hyperuricemia, 6) hyperuricosuria, 7) hypocitraturia, 8) cystinuria, 9) lysinuria and 10) distal renal tubular acidosis were ruled out. Subsequently, urine testing showed high concentration of glycolate with low glycerate and 4-hydroxy-2-oxoglutarates establishing diagnosis of type 1 primary hyperoxaluria (PH I). Further confirmatory tests included: 1) kidney biopsy which showed typical crystals deposition, 2) liver biopsy that confirmed deficiency of the liver-specific peroxisomal enzyme alanine: glyoxylate aminotransferase (AGXT), and 3) full gene analysis that confirmed gene mutation. In conclusion, our case report provides practical algorithm for establishing diagnosis in MNC which is not renal-limited and its prognosis depends upon the underlying etiology.展开更多
原发性1型高草酸尿症(primary hyperoxaluria type 1,PH1)是一种由于肝酶缺乏致草酸盐全身沉积的罕见遗传性疾病,目前一线治疗推荐肝肾联合移植。肝移植术后多并发吻合口狭窄、化脓性胆管炎等胆道并发症,严重影响患者的生存质量。内镜...原发性1型高草酸尿症(primary hyperoxaluria type 1,PH1)是一种由于肝酶缺乏致草酸盐全身沉积的罕见遗传性疾病,目前一线治疗推荐肝肾联合移植。肝移植术后多并发吻合口狭窄、化脓性胆管炎等胆道并发症,严重影响患者的生存质量。内镜逆行胰胆管造影术是诊断化脓性胆管炎的“金标准”,同时能有效解除胆道梗阻,并根据胆汁药敏结果指导抗生素的应用。中医胆为六腑之一,“腑以通为用”,我科经验方健脾清胆汤能疏肝健脾、利湿退黄、清热通腑,有助于减轻胆汁淤积,恢复正常排泄,改善胆道炎症。现报道内镜逆行胰胆管造影术联合健脾清胆汤治疗PH1肝肾联合移植术后吻合口狭窄合并化脓性胆管炎伴胆汁瘤患儿1例,以期提高临床医师对该病的认识。展开更多
目的探讨原发性高草酸尿症1型(PH1)的临床表现、治疗及预后。方法检索维普网、中国知网、万方数据库、PubMed、Web of Science、Embase和Cochrane数据库中的相关文献,收集57例PH1患者的临床资料,对其临床表现、诊疗经过及预后情况进行...目的探讨原发性高草酸尿症1型(PH1)的临床表现、治疗及预后。方法检索维普网、中国知网、万方数据库、PubMed、Web of Science、Embase和Cochrane数据库中的相关文献,收集57例PH1患者的临床资料,对其临床表现、诊疗经过及预后情况进行分析。结果共纳入符合标准的文献35篇,共57例PH1患者,其中男39例,女18例,年龄0.2~57.0岁,发病年龄为出生后至42岁。57例PH1患者的临床症状表现特异性较低,肾结石41例,肾钙化和(或)肾钙质沉积21例,泌尿系统外草酸沉积12例,腰背腹痛12例,输尿管结石8例,此外尿量减少、代谢性酸中毒、水电解质紊乱、贫血、肉眼血尿等症状均有报道,有33例在诊断时已进入终末期肾病(ESRD)阶段。26例患者接受移植治疗,肾移植17例(2例因结石复发、恢复透析再次接受肝肾联合移植,1例恢复透析并再次接受肝移植),肝肾联合移植7例,肝移植2例,肝肾序贯移植3例。31例患者未接受移植治疗。接受移植治疗的患者与未接受移植治疗的患者存活率差异有统计学意义(85%比58%,P<0.05)。结论PH1的临床表现多样且缺乏特异性,发现时多已进入ESRD阶段,接受移植治疗较未接受移植治疗的患者预后更佳,应优先考虑预先肝移植或肝肾联合移植。展开更多
文摘Introduction: Primary hyperoxaluria type 1 (HP1) is a rare lithiasis with systemic involvement, due to the accumulation of calcium oxalate crystals. In the absence of therapeutic management, it progresses to end-stage chronic renal failure. The aim of this study is to describe and analyse the observations of our patients with HP1. Patients and methods: This is a retrospective study carried out between 2014 and 2023 in the Nephrology-Dialysis Transplant Department of the Ibn Sina University Hospital in Rabat. The clinical, paraclinical and evolutionary elements were taken from the patients’ medical records. Results: We collected 11 cases, with a mean age of 27 ± 8.5 years and a M/F sex ratio of 1.7. The diagnosis of HP1 was made on the basis of genetic analysis in 8 patients, morphological and spectro-photometric analysis of the calculus in one patient, biopsy of the graft in one patient and crystalluria and a family history of PH1 in one patient. Two patients died, and 8 patients were on chronic haemdialysis with systemic damage. Only one patient maintained a stable GFR at 60 ml/min. Conclusion: Early diagnosis combined with conservative treatment is the only way to limit the rapid progression of this disease. This requires awareness and collaboration between nephrologists, urologists and biologists within a specialised team.
文摘Medullary Nephrocalcinosis (MNC) is defined as calcium deposition in tubular basement membrane and interstitium of the kidney medulla. It is 20 times more common than cortical one. In this case report, we present a 12-year-boy who presented with persistent nocturnal enuresis for 8 years. Physical examination and routine tests were normal except for microscopic hematuria. Renal ultrasound showed extensive MNC. Twenty-four-hour urine collection revealed normal mineral metabolic screen with low urinary excretion of calcium, phosphorous, magnesium and uric acid yet high for oxalates. Hence, and based on the above-mentioned data, certain metabolic disorders were ruled out: 1) hyperparathyroidism, 2) excessive intake of vitamin D, 3) hypercalcemia, 4) hypercalciuria, 5) hyperuricemia, 6) hyperuricosuria, 7) hypocitraturia, 8) cystinuria, 9) lysinuria and 10) distal renal tubular acidosis were ruled out. Subsequently, urine testing showed high concentration of glycolate with low glycerate and 4-hydroxy-2-oxoglutarates establishing diagnosis of type 1 primary hyperoxaluria (PH I). Further confirmatory tests included: 1) kidney biopsy which showed typical crystals deposition, 2) liver biopsy that confirmed deficiency of the liver-specific peroxisomal enzyme alanine: glyoxylate aminotransferase (AGXT), and 3) full gene analysis that confirmed gene mutation. In conclusion, our case report provides practical algorithm for establishing diagnosis in MNC which is not renal-limited and its prognosis depends upon the underlying etiology.
文摘原发性1型高草酸尿症(primary hyperoxaluria type 1,PH1)是一种由于肝酶缺乏致草酸盐全身沉积的罕见遗传性疾病,目前一线治疗推荐肝肾联合移植。肝移植术后多并发吻合口狭窄、化脓性胆管炎等胆道并发症,严重影响患者的生存质量。内镜逆行胰胆管造影术是诊断化脓性胆管炎的“金标准”,同时能有效解除胆道梗阻,并根据胆汁药敏结果指导抗生素的应用。中医胆为六腑之一,“腑以通为用”,我科经验方健脾清胆汤能疏肝健脾、利湿退黄、清热通腑,有助于减轻胆汁淤积,恢复正常排泄,改善胆道炎症。现报道内镜逆行胰胆管造影术联合健脾清胆汤治疗PH1肝肾联合移植术后吻合口狭窄合并化脓性胆管炎伴胆汁瘤患儿1例,以期提高临床医师对该病的认识。
文摘目的探讨原发性高草酸尿症1型(PH1)的临床表现、治疗及预后。方法检索维普网、中国知网、万方数据库、PubMed、Web of Science、Embase和Cochrane数据库中的相关文献,收集57例PH1患者的临床资料,对其临床表现、诊疗经过及预后情况进行分析。结果共纳入符合标准的文献35篇,共57例PH1患者,其中男39例,女18例,年龄0.2~57.0岁,发病年龄为出生后至42岁。57例PH1患者的临床症状表现特异性较低,肾结石41例,肾钙化和(或)肾钙质沉积21例,泌尿系统外草酸沉积12例,腰背腹痛12例,输尿管结石8例,此外尿量减少、代谢性酸中毒、水电解质紊乱、贫血、肉眼血尿等症状均有报道,有33例在诊断时已进入终末期肾病(ESRD)阶段。26例患者接受移植治疗,肾移植17例(2例因结石复发、恢复透析再次接受肝肾联合移植,1例恢复透析并再次接受肝移植),肝肾联合移植7例,肝移植2例,肝肾序贯移植3例。31例患者未接受移植治疗。接受移植治疗的患者与未接受移植治疗的患者存活率差异有统计学意义(85%比58%,P<0.05)。结论PH1的临床表现多样且缺乏特异性,发现时多已进入ESRD阶段,接受移植治疗较未接受移植治疗的患者预后更佳,应优先考虑预先肝移植或肝肾联合移植。
