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Andrew L Schwaderer

Publications and source records attributed to Andrew L Schwaderer.

5 recordsLinked to original sources
PubMed2006

Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia.

Renal agenesis/adysplasia is the leading etiology of end stage renal disease in children. The etiology for renal agenesis/adysplasia has not been identified. The purpose of the present study was to determine if renal agenesis/adysplasia occur in a familial pattern. Twenty seven cases of bilateral renal agenesis/adysplasia were identified by review of autopsy records, and four were excluded. A male excess of 2.8:1 was noted with a mean gestation of 35 weeks. Prenatal and family histories were obtained on 11/23 families. Potential embryologic stressors were identified in 8/11 pregnancies. Thirty-four 1st and 2nd degree relatives from five families participated in a renal ultrasound exam. An increased prevalence of congenital renal anomalies was identified in the relatives of index patients with bilateral renal agenesis/adysplasia (14.7%) compared to controls (2.2%), with a recurrence risk of 6.2 for 1st degree relatives. The most frequently identified renal anomalies in the family members were solitary kidneys and duplicated collecting systems. The increased prevalence of a range of renal anomalies within affected families raises the possibility that isolated renal malformations result from unidentified gene-environment interactions.

Cohort Studies↗
PubMed2005

Galectin-3 expression is induced in renal beta-intercalated cells during metabolic acidosis.

The adaptation of the cortical collecting duct (CCD) to metabolic acidosis requires the polymerization and deposition in the extracellular matrix of the novel protein hensin. HCO3(-)-secreting beta-intercalated cells remove apical Cl-:HCO3(-) exchangers and may reverse functional polarity to secrete protons. Using intercalated cells in culture, we found that galectin-3 facilitated hensin polymerization, thereby causing their differentiation into the H+-secreting cell phenotype. We examined the expression of galectin-3 in the rabbit kidney and its relationship to hensin during metabolic acidosis. In control kidneys, galectin-3 was expressed in the cortical and medullary collecting ducts. In the outer cortex 26 +/- 3% of CCD cells expressed galectin-3 compared with 64 +/- 3% of the cells of the inner cortex. In the CCD, galectin-3 was rarely expressed in beta-intercalated cells, being primarily present in alpha-intercalated and principal cells. During metabolic acidosis, the intensity of cellular staining for galectin-3 increased and more cells began to express it; the percentage of CCD cells expressing galectin-3 increased from 26 +/- 3 to 66 +/- 3% in the outer cortex and from 64 +/- 3 to 78 +/- 4% in the inner cortex. This was particularly evident in beta-intercalated cells where expression was found in only 8 +/- 2% in control animals but in 75 +/- 2% during metabolic acidosis in the outer cortex and similarly for the inner cortex (26 +/- 6 to 90 +/- 7%). Importantly, both galectin-3 and hensin were found in the extracellular matrix of microdissected CCDs; and during metabolic acidosis, many more cells exhibited this extracellular colocalization. Thus galectin-3 may play several important roles in the CCD, including mediating the adaptation of beta-intercalated cells during metabolic acidosis.

Acidosis↗
PubMed2005

Granulomatous interstitial nephritis associated with bone marrow transplantation.

We describe two brothers with severe combined immunodeficiency, who presented with systemic granulomatous disease, with granulomatous interstitial nephritis as the main feature, several years following bone marrow transplantation. Neither brother had an apparent drug-induced, infectious disease or autoimmune source for the granulomatous interstitial nephritis. Both patients' renal function improved following treatment with corticosteroids. This report implicates granulomatous interstitial nephritis as a complication of bone marrow transplantation for severe combined immunodeficiency.

Adolescent↗