Focal segmental glomerulosclerosis in a boy with Dent-2 disease

Kaneko, Kazunari; Hasui, Masafumi; Hata, Atsuko; Hata, Daisuke; Nozu, Kandai

doi:10.1007/s00467-009-1362-z

Cited by 21 publications

(20 citation statements)

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“…This progression is in line with histological findings in patients with Dent-1 disease due to variants in CLCN5 [63, 64]. Renal biopsy in four patients with Dent-2 disease (age at biopsy 4–16 years) was unremarkable in three patients [38, 52, 60] and showed isolated focal-segmental glomerulosclerosis in one patient [65]. …”

Section: Clinical Manifestations and Managementsupporting

confidence: 79%

The oculocerebrorenal syndrome of Lowe: an update

2016

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The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, intellectual disability, and proximal renal tubular dysfunction. Whereas the ocular manifestations and severe muscular hypotonia are the typical first diagnostic clues apparent at birth, the manifestations of incomplete renal Fanconi syndrome are often recognized only later in life. Other characteristic features are progressive severe growth retardation and behavioral problems, with tantrums. Many patients develop a debilitating arthropathy. Treatment is symptomatic, and the life span rarely exceeds 40 years. The causative oculocerebrorenal syndrome of Lowe gene (OCRL) encodes the inositol polyphosphate 5-phosphatase OCRL-1. OCRL variants have not only been found in classic Lowe syndrome, but also in patients with a predominantly renal phenotype classified as Dent disease type 2 (Dent-2). Recent data indicate that there is a phenotypic continuum between Dent-2 disease and Lowe syndrome, suggesting that there are individual differences in the ability to compensate for the loss of enzyme function. Extensive research has demonstrated that OCRL-1 is involved in multiple intracellular processes involving endocytic trafficking and actin skeleton dynamics. This explains the multi-organ manifestations of the disease. Still, the mechanisms underlying the wide phenotypic spectrum are poorly understood, and we are far from a causative therapy. In this review, we provide an update on clinical and molecular genetic findings in Lowe syndrome and the cellular and physiological functions of OCRL-1.

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Section: Clinical Manifestations and Managementsupporting

confidence: 79%

The oculocerebrorenal syndrome of Lowe: an update

2016

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“…This finding was consistent with the results of other studies, which reported that many patients with Dent disease presented with nephrotic-range proteinuria and some were treated for nephrotic syndrome (11)(12)(13). The current results suggested that Dent disease should be considered in all male patients with nephrotic-range proteinuria without hypoalbuminemia or edema, and especially in young or adolescent patients, in order to prevent adverse reactions to unnecessarily administered immunosuppressive agents (14,15).…”

Section: Discussionsupporting

confidence: 92%

Diagnosis and treatment of Dent disease in 10 Chinese boys

Zhang

Wang

et al. 2017

IRDR

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“…Another factor may have been long-term treatment with non-steroidal antiinflammatory drugs [9]. In addition, Dent disease and Bartter syndrome themselves have been considered as possible causes of FGS [1,6,8,11]. Hypokalemic nephropathy might contribute to the development of end-stage renal failure in these patients.…”

Section: Discussionmentioning

confidence: 97%