Arend Bokenkamp

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BACKGROUND AND OBJECTIVES Lowe syndrome is defined by congenital cataracts, mental retardation, and proximal tubulopathy and is due to mutations in OCRL. Recently, mutations in OCRL were found to underlie some patients with Dent disease, characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. This phenotypic heterogeneity is(More)
Biallelic mutations of the DNA annealing helicase SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1) cause Schimke immuno-osseous dysplasia (SIOD, MIM 242900), an incompletely penetrant autosomal recessive disorder. Using human, Drosophila and mouse models, we show that the proteins encoded by SMARCAL1(More)
UNLABELLED Renal involvement is regularly encountered in neonates with invasive candidiasis, especially when risk factors like congenital malformations of the renal tract or poor bladder emptying and preterm birth are present. However, complete obstruction of the renal collecting system by fungal balls is rare. Although conservative management has been(More)
BACKGROUND Allograft function following renal transplantation is commonly monitored using serum creatinine. Multiple cross-sectional studies have shown that serum cystatin C is superior to creatinine for detection of mild to moderate chronic kidney dysfunction. Recent data in adults indicate that cystatin C might also be a more sensitive marker of acute(More)
A 5-year-old boy underwent total plasma exchange to remove anti-neuronal anti-Hu autoantibodies as a complication of neuroblastoma, leading to autonomic bowel dysfunction. Total plasma exchange (TPE) resulted eventually in a reduction of autoantibody levels, but, more importantly, led to improvement of bowel function. TPE proved to be a safe and effective(More)
Dear Editor, With interest, we read the clinical quiz by Aksoy et al. [1] describing a premature infant with bilateral obstructing candida fungus balls demonstrated by antegrade pyelography. The authors advocate the use of antegrade amphotericin B irrigation via the nephrostomy tubes, which were left in situ for 2 and 8 weeks respectively. Although urinary(More)
BACKGROUND Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1). However, the mechanism by which the vascular and pulmonary disease arises in SIOD(More)
Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive, fatal childhood disorder associated with skeletal dysplasia, renal dysfunction, and T-cell immunodeficiency. This disease is linked to biallelic loss-of-function mutations of the SMARCAL1 gene. Although recurrent infection, due to T-cell deficiency, is a leading cause of morbidity and(More)
BACKGROUND Patients suffering from an H1N1 infection mainly suffer from respiratory symptoms but may also develop symptoms in other organ systems, such as the kidneys. CASE-DIAGNOSIS/TREATMENT A 4 ½ year-old boy was admitted with relatively mild respiratory symptoms of H1N1 infection, but developed severe generalized proximal tubular dysfunction with(More)