Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function

Article Abstract:

A detailed study was performed of 23 male patients with a rare genetic disorder known as the oculocerebrorenal syndrome of Lowe, which is characterized by cataracts, neurologic deficit, and disorders of the renal (kidney) tubules, which concentrate the urine. The results of this in-depth investigation should aid diagnostic and therapeutic efforts in other cases of the syndrome. The oldest patient studied was 33 years old, and only one older patient (41) with this disorder was known to the authors. Renal failure usually occurs in those affected by this syndrome by the mid-30s. The stages of kidney dysfunction are described; they were found to be different than commonly thought. For example, kidney dysfunction was already apparent in infancy. The growth rate of patients affected with the oculocerebrorenal syndrome of Lowe appeared normal in early infancy (the first year), then declined, and continued at a slow rate through adolescence. Bone age (based on the extent of maturation of bone, as determined by X-ray imaging) fell behind chronologic age over time, and height age lagged behind bone age. Results from an array of tests measuring renal function and other physiologic variables are presented in tabular and graphic form, and discussed. Supplementation with potassium, vitamin D, phosphate, calcium, or carnitine (used for treating muscle disorders) may have therapeutic value. Although the gene that causes the oculocerebrorenal syndrome has not been identified, progress using techniques of molecular biology is being made. (Consumer Summary produced by Reliance Medical Information, Inc.)

Physiological aspects, Development and progression, Lowe's syndrome, Oculocerebrorenal syndrome

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Detection of mutations in the tyrosinase gene in a patient with Type IA oculocutaneous albinism

Article Abstract:

Oculocutaneous albinism is a genetic disorder of pigmentation. In Type IA, the most severe type of oculocutaneous albinism, there is no activity of the enzyme tyrosinase in pigment cells. This enzyme (a protein that catalyzes, or facilitates, a chemical reaction) is responsible for converting tyrosine to dopa, and dopa to dopaquinone. Modern techniques now allow investigation of the tyrosinase gene to better characterize its abnormalities in Type IA oculocutaneous albinism. These methods were used to study genetic material from a woman with severe Type IA disease. Her parents, two brothers, and two children had normal pigmentation, while her three sisters were affected in a manner similar to hers. Results of the genetic analysis revealed that her albinism was the result of defects in or near the tyrosinase gene, and probably the result of single-base substitutions in the genetic message (which consists of a sequence of bases) that affects aspects of the synthesis, function, or stability of the tyrosinase enzyme. Precise details of the genetic abnormalities are provided. It is likely that the base substitutions at the two identified regions interfered with the binding of copper, which is essential for tyrosinase to be effective. When the mutations responsible for this disorder have been fully described, families with oculocutaneous albinism could then choose to undergo prenatal diagnosis of the condition, if they so desire. (Consumer Summary produced by Reliance Medical Information, Inc.)

Case studies, Diagnosis, Oxidases

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Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)

Article Abstract:

A gene mutation that appears to be relatively common in Puerto Rico may be responsible for some cases of Hermansky-Pudlak syndrome. This disease is characterized by albinism, vision disorders, prolonged bleeding and restrictive lung disease. Researchers tested 49 patients with this syndrome for the gene mutation on chromosome 10 that has been linked to the disease. All 25 of the Puerto-Rican patients had the mutation, but none of the U.S. patients did. Those with the mutation were more likely to have fibrosis of the lung, causing restrictive lung disease.

Health aspects, Gene mutations, Gene mutation

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