Medical Features, cont'd. D. Kidneys 1. In a normal kidney, these substances are usually filtered and then either excreted in the urine or reabsorbed as needed back into the body. Filtering is done by tiny filters called glomeruli.
Reabsorption occurs in the kidney's tubules which are attached to each glomerulus.
In kidneys affected by Lowe syndrome, the tubules are abnormal. As a result, substances are filtered out and excreted rather than reabsorbed as needed. This problem is known as Fanconi-type renal tubular dysfunction and can also be seen in certain other diseases and syndromes. In Lowe syndrome, the Fanconi syndrome may be mild and involve only a few substances or may be severe and involve large losses of many substances. The clinical signs of kidney abnormalities in Lowe syndrome are often not present at birth, but usually become apparent by one year of age.