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pediatric nephrology

Dialysis in Neonates

Recently, there was an article in Slate magazine that detailed the very difficult decision that had to be made by a pregnant woman who discovered at 18 weeks gestation that her baby had complete bladder outlet obstruction with…

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Nail-Patella Syndrome

Too long have I seen the “Nail-Patella Syndrome” included in the differential diagnosis of renal disease without understanding anything about it…that ends today! The Nail Patella Syndrome (NPS), also referred to as Hereditary Onychoosteodysplasia, is an autosomal dominant…

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EAST Syndrome

A relatively recent study by Bockenhauer et al in NEJM reports the identification of a new disease gene in a rare tubulopathy syndrome that sheds light on the physiologic mechanisms of salt transport in the kidney. The article…

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Genetics of Wilms Tumor

Wilms Tumor–named after the German surgeon/pathologist Max Wilms (pictured at left)–is an embryonal tumor that derives from developing kidney tissue. Wilms was the first to postulate that tumors may arise from precursor cells which arise during development, and…

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Lesch-Nyhan Syndrome

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…

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Congenital analbuminemia

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…

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