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1.  Angiotensin‐converting enzyme inhibitor fetopathy: long‐term outcome 
Fetal exposure to angiotensin‐converting enzyme inhibitors (ACEIs) is associated with increased neonatal morbidity and mortality. Long‐term follow‐up of three patients with fetal ACEI exposure revealed impaired renal function in two, severe hypertension and proteinuria in one and isolated polycythaemia in all three. Careful long‐term follow‐up of children with ACEI fetopathy is recommended.
PMCID: PMC2675369  PMID: 17284475
angiotensin‐converting enzyme inhibitor; fetopathy; neonatal renal failure; long‐term outcome; polycythaemia
2.  Integrin α3 Mutations with Kidney, Lung, and Skin Disease 
The New England Journal of Medicine  2012;366(16):1508-1514.
Integrin α3 is a transmembrane integrin receptor subunit that mediates signals between the cells and their microenvironment. We identified three patients with homozygous mutations in the integrin α3 gene that were associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin. The patients had a multiorgan disorder that included congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa. The renal and respiratory features predominated, and the lung involvement accounted for the lethal course of the disease. Although skin fragility was mild, it provided clues to the diagnosis.
PMCID: PMC3341404  PMID: 22512483

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