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pediatric nephrology

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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Pendred Syndrome

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…

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Orthostatic Proteinuria

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…

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Dent Disease

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…

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Routine Urinalysis Screening?

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…

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What is Intestinal Dialysis?

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…

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Potter’s Syndrome/Sequence

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…

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The WAGR Syndrome is a rare genetic syndrome whose acronym stands for Wilms tumor, Aniridia (an absence of the iris), Genitourinary abnormalities, and mental Retardation. It is caused by a deletion of chromosome 17p. The genitourinary abnormalities may…

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Neonatal Lupus

Neonatal lupus occurs when autoantibodies are transmitted from the mother to the fetus; it usually manifests as a transient and mild lupoid rash which lasts 3-6 months, but can also result in more serious manifestations such as congenital…

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