Thelansis

 Cystinuria, an uncommon condition affecting the transport of amino acids in renal tubules, is characterized by recurrent kidney stone formation primarily composed of cystine. This disorder follows an autosomal recessive inheritance pattern. It is attributed to mutations in the SLC7A9 and SLC3A1 genes, which encode a protein complex that regulates kidney amino acid reabsorption. Genetic alterations in these genes disrupt the function of the protein complex, leading to increased cystine concentration in urine. Clinical presentation mirrors that of obstructive urolithiasis, featuring symptoms such as flank pain, hematuria, vomiting, and fever, with variations observed in pediatric cases, including dysuria, recurrent abdominal pain, and urinary tract infections. Stone analysis remains pivotal for precise diagnosis, the gold standard for identifying kidney stone types, including cystine stones. The current treatment paradigm for cystine stone formers advocates a stepwise approach, comm...

 Cystinuria is a rare disorder of renal tubular amino acid transport characterized by the recurrent formation of kidney cystine stones. Cystinuria is inherited in an autosomal recessive pattern. Cystinuria is caused by changes (mutations) in the SLC7A9 and SLC3A1 genes. These genes encode a protein complex that helps control the kidneys' reabsorption of amino acids (such as cystine). Mutations in these genes disrupt the function of the protein complex, causing cystine to become more concentrated in the urine. ·        The prevalence of cystinuria has high ethnographic variation, ranging from 1:2,500 in the Libyan Jewish population to 1:100,000 in Sweden. The mean global value is estimated at 1:7,000. Thelansis’s “Cystinuria Market Outlook, Epidemiology , Competitive Landscape , and Market Forecast Report – 2021 To 2032" covers disease overview, epidemiology, drug utilization, prescription share analysis, competitive landscape, clinical practice, re...