Early proximal tubular dysfunction in Lowe's syndrome.
نویسندگان
چکیده
The early diagnosis of Lowe's syndrome can be difficult. Urinary excretion of retinol binding protein (RBP) and the lysosomal enzyme N-acetyl-glucosaminidase (NAG) were significantly increased in boys with Lowe's syndrome. Measurement of these urine parameters is recommended in suspected cases.
منابع مشابه
Endo-Lysosomal Dysfunction in Human Proximal Tubular Epithelial Cells Deficient for Lysosomal Cystine Transporter Cystinosin
Nephropathic cystinosis is a lysosomal storage disorder caused by mutations in the CTNS gene encoding cystine transporter cystinosin that results in accumulation of amino acid cystine in the lysosomes throughout the body and especially affects kidneys. Early manifestations of the disease include renal Fanconi syndrome, a generalized proximal tubular dysfunction. Current therapy of cystinosis is...
متن کاملLoss of tubular creatinine secretion as the only sign of tubular proximal cell dysfunction in light chain proximal tubulopathy
Light chain proximal tubulopathy (LCPT) is a rare disease, characterized by cytoplasmic inclusions of light chain (usually kappa) immunoglobulins. Clinical presentation is usually a Fanconi syndrome. The proximal tubular dysfunction can be incomplete, and exceptional cases of LCPT without any tubular dysfunction have even been described. Here, we report a case of LCPT in which the only sign of ...
متن کاملLight and electron microscopic observation in a case of congenital renal proximal tubular dysfunction.
We report a case of congenital renal proximal tubular dysfunction (CRPTD) accompanied by IgA nephropathy. The mesangial matrix was slightly increased with depositions of IgA and C3. Podocytes contained many clear vacuoles. Cuboidal cells, as well as squamous cells, lined the parietal epithelium of Bowman's capsule, although the functional or pathological significance of the cuboidal cells is un...
متن کاملRole of P-Glycoprotein Expression and Function in Cystinotic Renal Proximal Tubular Cells
P-glycoprotein (P-gp) is an ATP-dependent transporter localized at the apical membrane of the kidney proximal tubules, which plays a role in the efflux of cationic and amphipathic endogenous waste products and xenobiotics, such as drugs, into urine. Studies in mice deficient in P-gp showed generalized proximal tubular dysfunction similar to the phenotype of patients with cystinosis, an autosoma...
متن کاملHypokalaemic paralysis and normocalcaemic tetany--a rare presentation of Sjogren's syndrome.
38 year old woman was admitted with acute onset of quadriplegia. Biochemical investigation revealed severe hypokalaemia with hyperchloraemic metabolic acidosis, alkaline urine, and positive urinary anion gap which are the hallmark of distal tubular acidosis. In addition she also had hypophosphataemia, normoglycaemic glycosuria, aminoaciduria, and hyperphosphaturia suggestive of proximal tubular...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Archives of disease in childhood
دوره 89 5 شماره
صفحات -
تاریخ انتشار 2004