Late diagnosis of Lesch–Nyhan disease complicated with end-stage renal disease and tophi burst: a case report

Ambarsari, Cahyani Gita; Cahyadi, Daffodilone; Sari, Lenny; Satria, Oryza; Sahli, Felly; Darmadi, Thyrza Laudamy; Kadaristiana, Agustina

doi:10.1080/0886022x.2020.1713805

Cited by 16 publications

(13 citation statements)

References 25 publications

(33 reference statements)

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“…is hyperferritinemia may have been resulted from multiple transfusions before HD initiation. e majority of cases referred to our center are in acutely ill condition with severe anemia requiring packed red cell transfusions or have received blood transfusions prior to referral [21,22]. e pediatric dialysis unit has not been widely available in Indonesia [4]; therefore, referral system has been a major issue, since Indonesia is an archipelago consisting of 17,504 islands [23].…”

Section: International Journal Of Nephrologymentioning

confidence: 99%

Low-Dose Maintenance Intravenous Iron Therapy Can Prevent Anemia in Children with End-Stage Renal Disease Undergoing Chronic Hemodialysis

Ambarsari

Trihono

Kadaristiana

et al. 2020

International Journal of Nephrology

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Iron deficiency anemia is common in children with end-stage renal disease (ESRD) on long-term hemodialysis receiving erythropoiesis-stimulating agents. One approach to maintain the iron profile and hemoglobin levels is maintenance therapy with regular low doses of intravenous (IV) iron after initial iron repletion therapy; however, evidence for the benefits of this approach is lacking. This study evaluated the effect of IV iron maintenance therapy on anemia in children on regular hemodialysis. This retrospective cohort study included 41 pediatric ESRD patients with normal hemoglobin and iron status who underwent regular hemodialysis at the Pediatric Dialysis Unit of Cipto Mangunkusumo Hospital, Indonesia, between January 2015 and April 2019. Among these, 21 received IV iron maintenance therapy with two doses of 2 mg/kg of IV iron sucrose every 2 weeks (the treatment group) and 20 did not (the comparison group). Changes in hemoglobin and transferrin saturation were assessed after 6 weeks of observation and compared between the two groups. There was a significant reduction in the mean hemoglobin level compared with the baseline level in the comparison group (21 g/L; 95% CI, 9.3–33 g/L; p=0.001) but not in the treatment group (0.7 g/L; 95% CI, −6.6–8 g/L; p=0.84). The risk of anemia was lower in the treatment group (relative risk = 0.42; 95% CI, 0.22–0.79; p=0.003). Although majority of the patients had high baseline ferritin level, this study indicates that in our setting, ferritin may not be a reliable parameter to review the iron status, as it can be affected by chronic inflammation. Hence, the decision to start IV iron maintenance therapy in patients with hyperferritinemia should consider the patient’s clinical condition and morbidity. To conclude, the coadministration of IV iron maintenance therapy is beneficial for maintaining hemoglobin levels and preventing anemia in children with ESRD who are undergoing regular hemodialysis, have achieved the target hemoglobin levels, and have normal iron status.

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Section: International Journal Of Nephrologymentioning

confidence: 99%

Low-Dose Maintenance Intravenous Iron Therapy Can Prevent Anemia in Children with End-Stage Renal Disease Undergoing Chronic Hemodialysis

Ambarsari

Trihono

Kadaristiana

et al. 2020

International Journal of Nephrology

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“…1 In our center, new cases of end-stage renal disease referred from other centers coming as "crash-landers" will be initiated on HD, which then will be converted to PD within the following few weeks. 2 Despite the advantages, mechanical complication of PD may occur because of surgical complications when inserting a Tenckhoff catheter or nonsurgical complications that arise during chronic care of a PD catheter.…”

Section: Introductionmentioning

confidence: 99%

An Unusual Case of Peritoneal Dialysis Twisted Catheter in a Child

et al. 2020

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Objective: Mechanical complications of peritoneal dialysis (PD) may occur because of surgical complications when inserting a Tenckhoff catheter or non-surgical complications during chronic care of a PD catheter. We aim to highlight the latter by presenting a case report of twisted external catheter. Method: We report an 11-year-old Indonesian girl with end-stage renal disease on continuous ambulatory PD at Cipto Mangunkusumo Hospital who was hospitalized due to repeat peritonitis.Result: Upon examination, the external catheter seemed twisted without inflow, outflow, or ultrafiltration problems. Her exit score was 4 with gaping. Both abdominal X-ray and ultrasound showed that the catheter and its cuffs were properly placed. The patient frequently pulled and manipulated her PD catheter. Additionally, the catheter-site care procedure was frequently done by untrained caregivers and catheter fixation was also not performed. A retraining program for all involved caregivers was carried out. Peritonitis resolved after 14-day-treatment using intraperitoneal gentamicin. We determined that the twisted catheter and repeat peritonitis were due to a combination of mechanical trauma, poor chronic catheter-site care, and suboptimal PD catheter training. Conclusion: Maintaining compliance for chronic PD catheter exit-site care by well-trained caregivers and by patients themselves, as well as the external catheter fixation are important.

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“…In Indonesia, HLA testing and antibody screening by solid‐phase immunoassay (Luminex) are not performed routinely because of their high cost (1689 USD). As a developing country, we occasionally experience restrictions in resources that hinder the desired provision of a standardized medical service, similar to the challenge we face because of inadequate supporting laboratories 49 . Given that the donor options are limited, the results of immunotyping are less applicable, despite positive HLA mismatching, DSA, and crossmatching being strongly assumed to play roles in transplant rejection 44,45,48,50 .…”

Section: Discussionmentioning

confidence: 99%

“…As a developing country, we occasionally experience restrictions in resources that hinder the desired provision of a standardized medical service, similar to the challenge we face because of inadequate supporting laboratories. 49 Given that the donor options are limited, the results of immunotyping are less applicable, despite positive HLA mismatching, DSA, and crossmatching being strongly assumed to play roles in transplant rejection. 44,45,48,50 In this study, six mismatches-two HLA-B, two HLA-C, one HLA-DQ Learning from our shortcomings, we must underline the importance of routine HLA typing, antibody screening, and crossmatching to ensure long-term graft integrity.…”

Section: Graft Survivalmentioning

confidence: 99%

Experience of the first 6 years of pediatric kidney transplantation in Indonesia: A multicenter retrospective study

Ambarsari

Hidayati

Trihono

et al. 2020

Pediatric Transplantation

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Background: Pediatric kidney transplantation was only introduced in Indonesia in 2013. We therefore aimed to assess the characteristics and outcomes of transplants performed from its inception to January 2019. Method: The study had a dual-center retrospective design. We examined the records of kidney transplant recipients and then calculated patient and graft survival rates by Kaplan-Meier survival analysis with 95% confidence intervals (95% CI). Results: In total, 12 kidney transplantations were performed in eleven children during the study period; among these, ten were boys, and nine had renal failure caused by congenital anomaly of the kidney or urinary tract. All donors were living, and all recipients were on dialysis at the time of transplantation, when their median age was 14.5 years (range, 8-19 years). Three patients died of infection in the first year of follow-up and two lost their allograft by the time of their last follow-up (median, 13 months; range, 4-69 months). The 1-year patient survival rate was therefore 68.18% (95% CI, 29.72%-88.61%), which remained unchanged at 3 and 5 years. However, the non-death-censored graft survival rates at 1, 3, and 5 years were 68.18% (95% CI, 29.72%-88.61%), 51.14% (95% CI, 14.5%-79.46%), and 25.57% (95% CI, 1.38%-64.78%), respectively. Conclusion: Patient and graft survival rates after pediatric kidney transplantation in Indonesia are lower than those reported in other countries. Closer patient follow-up and stricter adherence to guidelines could improve transplant outcomes, but we must seek to improve the balance between infection and rejection.

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Late diagnosis of Lesch–Nyhan disease complicated with end-stage renal disease and tophi burst: a case report

Cited by 16 publications

References 25 publications

Low-Dose Maintenance Intravenous Iron Therapy Can Prevent Anemia in Children with End-Stage Renal Disease Undergoing Chronic Hemodialysis

Low-Dose Maintenance Intravenous Iron Therapy Can Prevent Anemia in Children with End-Stage Renal Disease Undergoing Chronic Hemodialysis

An Unusual Case of Peritoneal Dialysis Twisted Catheter in a Child

Experience of the first 6 years of pediatric kidney transplantation in Indonesia: A multicenter retrospective study

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