I remember learning about Lesch-Nyhan and thinking it was fascinating early on during a college course on neurology & behavior: affected children with this X-linked disorder develop the bizarre but highly characteristic behavior of self-mutilation, intentional biting of…
Plasma oncotic pressure is important to prevent edema, right? And you would think that albumin, which plays a critical role in the binding of multiple plasma proteins and ionized calcium, is essential to life, right? The rare, autosomal…
Pendred Syndrome is an autosomal recessive disorder caused by mutations in the solute carrier family 26 member 4 gene (SLC26A4) which has some relevance to nephrology and acid-base metabolism. Its main phenotypic manifestations are thyroid goiter and sensorineural…
Orthostatic proteinuria occurs in between 2-5% of all adolescents–it is primarily a pediatric condition, rarely occurring after age 30. Orthostatic proteinuria refers to the condition of an individual having proteinuria only while upright; the urine protein level returns…
In a recent Kidney International Supplement issue dealing entirely with TTP/HUS, there are two interesting articles regarding the Walkerton, Ontario HUS Outbreak: the largest public health disaster involving municipal water in Canadian history. In May 2000, approximately 2300…
Dent Disease is a rare, X-linked inherited disease of pediatric nephrology. It can be filed under the category of “renal tubular dysfunction” and is also known as “X-linked Recessive Nephrolithiasis.” Clinical characteristics of Dent Disease include recurrent renal…
Is it a good idea to screen the pediatric population at-large for hematuria and proteinuria? This is a controversial topic, as generally speaking isolated hematuria or isolated proteinuria are almost always benign findings in pediatric populations, and…
We are well-versed in describing to our soon-to-be ESRD patients their options: kidney transplant, hemodialysis, or peritoneal dialysis. However, in many developing countries, these options do not exist, or there may be a significant delay in getting them…
Potter’s Syndrome–perhaps more accurately referred to as Potter’s Sequence as it refers to the pathophysiologic consequences of lack of kidney function in utero–is characterized by absence of renal function, oligohydramnios, pulmonary hypoplasia, and a characteristic “Potter’s facies”, in…
