At a Glance Alport syndrome is one of the many familial glomerulonephritis (GN). Often, this is seen as a GN (hematuria and proteinuria) in males, but only microscopic hematuria in females (carriers of the genetic risk). It has an age of onset in the late school age to early adolescence but has been identified in…
At a Glance The clinical findings of (renal) Fanconi syndrome are that of polyuria, polydipsia, failure to thrive and risk of dehydration in infancy and/or early child hood. At the age of weight bearing, it is not uncommon to see a child with “bowed legs” as they begin to walk. What Tests Should I Request…
At a Glance Bartter syndrome is a clinical condition associated with chronic metabolic alkalosis and hypokalemia. As opposed to Gitelman syndrome, Bartter syndrome has a normal serum magnesium (see section on Gitelman syndrome). The age of onset of clinical symptoms is within the first few years of life with the findings of polyuria and polydipsia,…
At a Glance The clinical presentation of Gitelman’s syndrome is often nonspecific. There may be evidence of polyuria and polydipisa, salt craving, muscle cramping, and malaise, as well as growth impairment in children. The usual age of diagnosis is mid- to late-teens and young adult. This is in contrast to that of Bartter syndrome, which…
At a Glance The clinical presentation is that of polyuria and polydipsia, failure to thrive, and systemic hypertension in infancy and/or early childhood. This is an autosomal dominant form of inheritance, so a family history of the same is supportive. What Tests Should I Request to Confirm My Clinical Dx? In addition, what follow-up tests…
