introduction: autosomal dominant polycystic kidney disease (adpkd) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. adpkd is genetically heterogeneous with two genes identified: pkd1 (16p13.3, 46 exons) and pkd2 (4q21, 15 exons). eighty five percent of the patients with adpkd have at least one mutation in the pkd1 gene. genetic studies have demonstrate...

Ultrasonography is an accurate and accessible method for detecting polycystic kidney disease (PKD), an inherited autosomal dominant disease, and other urinary tract diseases. The present work is a preliminary study of PKD and urinary tract abnormalities using ultrasonography in Persian and other long hair cats in Iran. This study was conducted on 83 cats including 68 Persian cats and 15 Persian...

Renal tubular cysts arise in several inherited human disorders which include autosomal dominant polycystic kidney disease (ADPKD), as well as rarer disorders such as autosomal recessive polycystic kidney disease (ARPKD) nephronophthisis and medullary cystic kidney. Despite their genetic, clinical and histopathological heterogeneity, all these diseases involve a dilation of tubules leading to cy...

BACKGROUND & AIMS Therapy for polycystic liver is invasive, expensive, and has disappointing long-term results. Treatment with somatostatin analogues slowed kidney growth in patients with polycystic kidney disease (PKD) and reduced liver and kidney volume in a PKD rodent model. We evaluated the effects of lanreotide, a somatostatin analogue, in patients with polycystic liver because of autosoma...

Previous studies report a cross-talk between the polycystic kidney disease (PKD) and tuberous sclerosis complex (TSC) genes. mTOR signalling is upregulated in PKD and rapamycin slows cyst expansion, whereas renal inactivation of the Tsc genes causes cysts. Here we identify a new interplay between the PKD and TSC genes, with important implications for the pathophysiology of both diseases. Kidney...

Autosomal dominant polycystic kidney disease (PKD) is the most common genetic disease that leads to kidney failure in humans. In addition to the known causative genes PKD1 and PKD2, there are mutations that result in cystic changes in the kidney, such as nephronophthisis, autosomal recessive polycystic kidney disease, or medullary cystic kidney disease. Recent efforts to improve the understandi...

Background: Autosomal-dominant polycystic kidney disease (ADPKD) is the most prevalent inherited genetic disease of cats, predominantly affecting Persians and Persian-related cats. Aims: The purpose of this study was to determine prevalence of polycystic kidney disease (PKD) in Persian cats in Iran, and also to asses...

Unlike the uniform disease progression in inbred animals, polycystic kidney disease (PKD) progression within human families can be highly variable. This may be due to environmental or genetic factors or both. To determine if PKD severity can be influenced by modifier genes, we carried out an intercross between DBA/2-pcy/pcy and Mus m. castaneous involving 3,105 6-wk-old F2 mice. Large differenc...

Cystinuria is a rare autosomal recessive metabolic disorder of renal and intestinal cystine transport. Cystine stones are found in only 1-2% of all stone formers. Patients with cystinuria are at high risk for nephrolithiasis and subsequent morbidity. Our patient is a 37-year-old male who presented for routine follow-up for polycystic kidney disease (PKD). He denied any history of passing nephro...

Gene dosage effects have emerged as playing a central role in the pathogenesis of polycystic kidney disease. Yet, how gene dosage can ultimately have an impact on the formation of kidney cysts remains unknown. In this commentary we review the evidence for the role of gene dosage effects versus the "2-hit" mutation model in polycystic kidney disease (PKD), and also discuss how gene networks may ...