OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts

Abstract

Children with Dent phenotype who lack CLCN5 mutation should be tested for OCRL1 mutation. OCRL1 mutations may present with mild clinical features and are not necessarily associated with congenital cataracts.

Incidental Detection of Dent-2 Disease in an Infant with Febrile Proteinuria

“…Dent-2 disease should be differentiated from oculocerebrorenal syndrome of Lowe, which is a multisystem disorder characterized by congenital cataracts, hypotonia, severe neurologic deficits, intellectual disability, and renal Fanconi syndrome [9,10]. Mild intellectual disability and peripheral cataracts may be seen in some patients with Dent-2 disease, therefore one should consider both entities within the spectrum of OCRL mutations.…”

Muscle involvement in Dent disease 2

“…The renal manifestations of Dent disease 1 and 2 are almost the same, while some patients with Dent disease 2 have extrarenal symptoms, which are also typically seen in patients with Lowe syndrome [16]. Consequently, there has been a focused search for clinical markers that will allow differentiation of Dent disease 1 and 2, especially in patients with renal involvement only [6][7][8][9][10][16][17][18]. In this context, one of the most important findings reported in most of these studies [6-10, 16, 17] is the elevation of serum levels of muscle enzymes in patients with Dent disease 2.…”

“…However, in patients without any extrarenal manifestations, it is difficult to differentiate Dent disease 1 from Dent disease 2 on the basis of clinical features only without genetic tests. One possible clinical differential point between Dent disease 1 and 2 is the elevation of serum levels of muscle enzymes, especially creatine phosphokinase (CPK) and lactic dehydrogenase (LDH), in patients with Dent disease 2, as has been described at various frequencies in several published studies [6,[8][9][10][16][17][18].…”

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis

“…Neurologic signs consist of severe neonatal hypotonia, mental retardation, and an increased susceptibility to seizures 3, 7–9 . Some patients present with only one of these various phenotypes at birth, which may delay the appropriate diagnosis of the disease 10 . The classic triad of congenital cataracts, infantile hypotonia with intellectual disability, and proximal renal tubular dysfunction often does not present until later in life 11, 12 .…”