Improving a Rare Metabolic Disorder Through Kidney Transplantation: A Case Report of a Patient With Lysinuric Protein Intolerance.

Lysinuric protein intolerance (LPI) is a rare metabolic disorder with reduced renal and intestinal reabsorption of ornithine, lysine, and arginine. It is due to variants in SLC7A7, the gene encoding y+L amino acid transporter 1 (y+LAT1), which lead to urea cycle defects with protein intolerance. Chronic kidney disease in lysinuric protein intolerance is common and can progress to kidney failure and initiation of kidney replacement therapy. Kidney transplantation could in theory improve urine levels and, consequently, plasma levels of these amino acids and therefore improve clinical symptoms, as well as protein intolerance, in patients with lysinuric protein intolerance. However, data on kidney transplantation in patients with lysinuric protein intolerance are limited, and up until now no data on clinical and biochemical improvement after kidney transplantation have been reported. In this case report we describe a rare case of kidney transplantation in a lysinuric protein intolerance patient with substantial improvement in protein tolerance; in plasma and urine levels of ornithine, lysine, and arginine; and in lysinuric protein intolerance symptoms.

Pneumocystis jirovecii Pneumonia in Kidney Transplant Recipients Receiving Belatacept: A Report of Two Cases With Atypical Presentations.

Immunosuppressive therapy after kidney transplantation is associated with an increased risk for the development of opportunistic infections, such as Pneumocysti s jirovecii pneumonia (PJP). Belatacept, a selective costimulatory blocker that prevents T cell activation, was previously suggested to be a potential risk factor for PJP development in kidney transplant recipients. We present 2 cases of kidney transplant patients with PJP discovered unexpectedly during a diagnostic work-up for fever of unknown origin. Both patients lacked typical clinical findings such as hypoxia, ground-glass pattern on computed tomography, or suggestive biochemical alterations such as high lactate dehydrogenase levels or hypercalcemia. PJP should therefore be included in the differential diagnosis when evaluating fever in kidney transplant recipients receiving belatacept, even in the absence of typical pulmonary and laboratory findings.

Long-term patency rate of the translocated autologous saphenous vein versus prosthetic material in vascular access surgery for haemodialysis and parenteral nutrition.

OBJECTIVE: To evaluate the long-term patency rate of the arteriovenous angioaccess (AVA) with interposition of either autologous or prosthetic material as a last option for vascular access in the upper extremity. METHODS: This is a retrospective chart review study of all patients who received an AVA with autologous saphenous vein (SV Group, n = 38) or prosthetic material (PTFE Group, n = 25) as a conduit from the year 1996 to 2020 in the Radboud University Medical Center (Radboudumc). Data were retrospectively extracted from two prospectively updated local databases for vascular access, one for haemodialysis (HD) and one for parenteral nutrition (PN). When required, the medical records of each patient were used. Data were eventually collected anonymously and analysed in SPSS 25. Kaplan-Meier life-tables were used for the statistical analysis. RESULTS: Primary patency at 12 and 48 months was 30% and 20% in the SV group and 45% and 14% in the PTFE group. No significant difference was shown in the median primary patency rate (p = 0.715). Secondary patency at 12 and 48 months was 63% and 39% in the SV group and 55% and 19% in the PTFE group. This was considered a significant difference in median secondary patency in favour of the SV with 41.16 ± 17.67 months against 13.77 ± 10.22 months for PTFE (p = 0.032). The incidence of infection was significantly lower in the SV group (p = 0.0002). A Kaplan-Meier curve could not detect a significant difference in secondary patency between the access for haemodialysis and the access for parenteral nutrition. The secondary patency of the SV in parenteral nutrition access, was significantly higher when compared with PTFE (p = 0.004). CONCLUSION: The SV can be preferred over PTFE when conduit material is needed for long-term vascular access for HD or PN treatment due to its higher secondary patency and lower infection risk.

Predictors of symptomatic lymphocele after kidney transplantation.

PURPOSE: The development of a symptomatic lymphocele (SL) is a frequent postoperative surgical complication after kidney transplantation. It may lead to pain and discomfort and cause transplant malfunction or even secondary graft loss. A large cohort of renal recipients was investigated to identify the possible risk factors for SL. METHODS: All renal transplant patients of a single centre were retrospectively analysed for SL between January 2010 and December 2017. The SL group was compared to a control group from the same cohort. RESULTS: 45 out of 1003 transplanted patients developed an SL (incidence 4.5%), on average 50 days after kidney transplantation. SLs developed more in older patients, in those with a PD catheter and in ADKDP as primary diagnosis. Surgical predictors for SLs were venous anastomosis on the external iliac vein, concomitant PD catheter removal, perfusion defects, shorter operating time, splint > 7 days, double J stenting, discharge with drain, low initial drain production and ureteral obstruction. Opening of the peritoneum, re-operation for postoperative bleeding and previous nephrectomy seem protective for developing SL. CONCLUSION: We found multiple heterogeneous predictors for SL with a common denominator related to surgical management of the retroperitoneal space, peritoneum and the ureter. Future prospective studies are necessary to evaluate the influence of these variables on the development of SL.

A Successful Approach to Kidney Transplantation in Patients With Enteric (Secondary) Hyperoxaluria.

BACKGROUND: Enteric hyperoxaluria due to malabsorption may cause chronic oxalate nephropathy and lead to end-stage renal disease. Kidney transplantation is challenging given the risk of recurrent calcium-oxalate deposition and nephrolithiasis. METHODS: We established a protocol to reduce plasma oxalic acid levels peritransplantation based on reduced intake and increased removal of oxalate. The outcomes of 10 kidney transplantation patients using this protocol are reported. RESULTS: Five patients received a living donor kidney and had immediate graft function. Five received a deceased donor kidney and had immediate (n = 1) or delayed graft function (n = 4). In patients with delayed graft function, the protocol was prolonged after transplantation. In 3 patients, our protocol was reinstituted because of late complications affecting graft function. One patient with high-output stoma and relatively low oxalate levels had lost her first kidney transplant because of recurrent oxalate depositions but now receives intravenous fluid at home on a routine basis 3 times per week to prevent dehydration. Patients are currently between 3 and 32 months after transplantation and all have a stable estimated glomerular filtration rate (mean, 51 ± 21 mL/min per 1.73 m2). In 4 of 8 patients who underwent for cause biopsies after transplantation oxalate depositions were found. CONCLUSIONS: This is the first systematic description of kidney transplantation in a cohort of patients with enteric hyperoxaluria. Common complications after kidney transplantation impact long-term transplant function in these patients. With our protocol, kidney transplantation outcomes were favorable in this population with unfavorable transplantation prospects and even previous unsuccessful transplants.

Outcome in patients with idiopathic retroperitoneal fibrosis treated with corticosteroid or tamoxifen monotherapy.

BACKGROUND: Although corticosteroids (CS) are used primarily in idiopathic retroperitoneal fibrosis (iRPF), tamoxifen (TMX) may be a suitable alternative. We compared outcome with CS or TMX monotherapy for first presentation in a large group of patients with iRPF disease. METHODS: Of all patients with iRPF disease who were seen at our tertiary care referral centre from February 1999 to December 2011, 118 patients were eligible for this retrospective study. Treatment success was defined as the composite of (i) amelioration of symptoms, (ii) computed tomography (CT)-documented mass regression and, if applicable, (iii) definitive removal of ureteral stent or nephrostomy tube. Recurrence was defined as recurrence of signs and symptoms and/or CT-documented mass increase after initial treatment success with primary treatment. RESULTS: Presenting signs and symptoms did not differ between patients treated with CS (n = 50) or TMX (n = 68). Time to amelioration of symptoms after treatment initiation was shorter in CS-treated patients [CS, 2.0 (0.8-3.8) weeks versus TMX, 4.0 (2.0-6.0) weeks; P < 0.01]. Short-term percentual decrease in acute-phase reactant levels (P < 0.001 for both erythrocyte sedimentation rate and C-reactive protein) and serum creatinine level (P < 0.01) following treatment initiation was greater in CS-treated patients compared with that in TMX-treated patients. Mass regression at first follow-up CT scan was observed more frequently in CS-treated patients (CS, 84.0% versus TMX, 68.3%; P = 0.05) with no difference in time interval from treatment initiation to first follow-up CT between groups [CS, 5 (2-7) months versus TMX, 4 (4-5) months; P = 0.34]. Definite treatment success was non-significantly higher in CS-treated patients (CS, 72.7% versus TMX, 58.3%; P = 0.15). In patients with initial treatment success with primary treatment, recurrence rate was lower in TMX-treated patients (CS, 62.5% versus TMX, 21.4%; P < 0.01). CONCLUSIONS: CS are superior to TMX in treating iRPF disease. However, in patients with initial treatment success with primary treatment, recurrence rate was lower in TMX-treated patients.

[A woman with polyneuropathy and white nails]. / Een vrouw met polyneuropathie en witte nagels.

A 69-year-old woman had a progressive demyelinating and axonal polyneuropathy and a monoclonal gammopathy. Physical examination showed hyperpigmentation, acrocyanosis, white nails and pitting oedema. Additional tests showed polycythemia, thrombocytosis, a high serum VEGF-level, clonal plasma cells on bone marrow biopsy and sclerotic lesions of a cervical rib and the cervical and thoracal spine. POEMS-syndrome was diagnosed.

[Impaired renal function: be aware of exogenous factors]. / Verminderde nierfunctie: denk aan exogene factoren.

BACKGROUND: Renal function is currently estimated using the Modification of Diet in Renal Disease (MDRD) formula, which is partly based on the serum creatinine level. Patients with impaired renal function are referred to nephrologists in accordance with the Dutch national transmural agreement for 'Chronic renal impairment'. CASE DESCRIPTION: A 54-year-old woman without significant history was referred to analyse a coincidentally found decline in the estimated glomerular filtration rate (eGFR). The patient had no complaints and used no medication except creatine supplements. Additional diagnostic testing showed no abnormalities. After cessation of creatine supplementation, the calculated renal function normalized. CONCLUSION: Serum creatinine is a reflection of muscle mass. The use of creatine-containing dietary supplements, such as creatine ethyl ester, can influence serum creatinine levels and therefore the eGFR as calculated with the MDRD formula. The use of supplements deserves attention when taking the history.

[Melanomas more serious in the elderly]. / Melanomen bij ouderen ernstiger.

Two patients, a 96-year-old woman and a 94-year-old man, were diagnosed with metastatic cutaneous melanoma. The first patient had undergone radical excision of the primary tumour 18 months before. The second patient presented with neurological symptoms caused by a metastatic melanoma; the primary tumour had recently been resected. Both patients died within three weeks of the diagnosis. Cutaneous melanomas have a high metastatic rate. Treatment options are limited for metastatic disease. The incidence of melanoma increases with age. Old age is an independent risk factor, which is also associated with a poor prognosis. Older patients more often present with more serious histological characteristics and more aggressive types of melanoma. The Breslow thickness is also higher in patients aged 65 or over. Nodular melanoma, lentigo maligna or acral lentiginous melanoma are observed more frequently in this group of patients. Moreover, elderly people more frequently present with liver or cerebral metastases. Early diagnosis improves the prognosis, also in the elderly.