PMID: 697218Jun 1, 1978Paper

Cystine-lysinuric lithiasis

Anales españoles de pediatría
L CallísA Pi Ferrer

Abstract

Cistin-lisinuria is not a unfrequent etiology of lithiasis in children. Six patients have been studied as well as their families, being a total of 45 patients. Lithiasis was present in ten of our patients, and hyperaminoaciduria, without lithiasis in ten, affecting in both cases (with or without litiasis) either all the four amynoacide (cystine, lysine, arginine and ornithine) or only one or two of them. Authors have not found any correlation between clearance of cystine and the presence or absence of lithiasis; on the other hand the best index to correlate the presence of lithiasis is to reach a value, equal or superior to 300 mgr of cystine excreted in the urine per 1 gr of creatinine excreted in urine. The correct treatment in cystinuric patients with lithiasis is to alcalize the urine maintaining a constant urinary pH between 7-8, giving a sufficient dose of sodium bicarbonate per os. In case of resistance to this treatment or if a great calculi is present, D-penicillamine would be an efficient treatment to disolve the calculi. These treatment when carried out under analytical control presents no problems or complications in their experience.

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.