2011
DOI: 10.1007/s00467-010-1758-9
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Clinical and laboratory features of Macedonian children with OCRL mutations

Abstract: OCRL mutations, which are a hallmark of Lowe syndrome, have recently been found in patients with isolated renal phenotype (Dent-2 disease). In this report, we describe clinical and laboratory features in five Macedonian children with mutations in the OCRL gene. Children with a clinical diagnosis of Lowe syndrome or Dent disease underwent complete neurological and ophthalmological examination, imaging of the kidney and urinary tract, assessment of renal tubular function, and mutation analysis of the OCRL gene. … Show more

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Cited by 18 publications
(11 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: 80%
See 1 more Smart Citation
“…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: 80%
“…DMSA passes through the glomerular filtration barrier and enters the proximal tubular cells via the megalin–cubulin system [50]. Consequently, defective accumulation of 99m Tc-DMSA is a common finding in patients with proximal tubular damage and has been reported in patients with Lowe syndrome [50, 51], with Dent-1/Dent-2 disease [52, 53], as well as with other forms of the renal Fanconi syndrome [54]. …”
Section: Clinical Manifestations and Managementmentioning
confidence: 99%
“…INPP5E MORM mutations (arrow) result in deletion of the 18 C‐terminal amino acids [34]. Lowe's syndrome missense, nonsense and in‐frame deletion mutations in OCRL (pink) are distributed throughout the length of the protein [105,149,150]. OCRL Dent 2 disease missense and nonsense mutations (purple) generally cluster at the N‐terminal region of the protein.…”
Section: Inpp5e Mutations and Ciliopathy Syndromesmentioning
confidence: 99%
“…Recently, Lee et al [9] and Frishberg et al [56] described 14 patients with Dent's disease or Lowe syndrome, who showed poor accumulation of Tc99mDMSA in the kidneys with high bladder content of the radionuclide. A similarly abnormal Tc99mDMSA pattern has already been described in other tubular diseases, such as distal renal tubular acidosis, nephronophtisis [57][58][59], and three Dent-2 patients [60] even when there is a normal glomerular filtration rate. It remains speculative as to how Tc99mDMSA reaches the bladder as its handling is very complex in kidneys.…”
Section: Ifosfamide-induced Fsmentioning
confidence: 76%