Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: Summary statement of a First National Institutes of Health/Office of Rare Diseases conference

Abstract

Researchers and clinicians with expertise in autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF) and related fields met on May 5-6, 2005, on the National Institutes of Health (NIH) campus for a 1.5-day symposium sponsored by the NIH

Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney?

“…The PKHd1 gene is a very large gene with a complicated splicing pattern and makes genetic testing time consuming, expensive, and labor intensive. There is marked allelic heterogeneity and most patients are compound heterozygotes [25]. …”

Urgencia hipertensiva secundaria a enfermedad poliquística renal autosómica recesiva en lactante. Reporte de caso

“…Las tasas de supervivencia son aproximadamente de 86% a los cinco años, 67 a 71% a los 10 años. [7][8][9][10][11][12] La hipertensión arterial es diagnosticada al nacimiento en 80% de los pacientes. 8 Sin embargo, en nuestro paciente, ni al nacimiento ni a la entrada del hospital, se documentó hipertensión arterial; ésta fue detectada de manera súbita y sin presencia de manifestaciones clínicas.…”

“…Se cree que en la fisiopatología de la hipertensión arterial hay activación local del sistema renina-angiotensina-aldosterona y retención de sodio en los conductos colectores ectásicos y quísticos. 9 Es importante mencionar que las complicaciones cardiovasculares secundarias a hipertensión arterial, como la hipertrofia cardiaca o la insuficiencia cardiaca, son causas de morbilidad y mortalidad elevadas, por lo que el tratamiento antihipertensivo debe ser iniciado oportunamente en estadios iniciales.…”

Neonatal autosomal recessive polycystic kidney disease

“…Portal hypertension with variceal bleeding, cholangitis and hepatic insufficiency are the most common problems associated with the hepatic component of the disease. 2 The plain radiographic findings of ARPKD-CHF include large flank masses displacing the bowel loops centrally, producing an appearance similar to ascites, and therefore referred to as the pseudoascites sign. 3 Sonographically the disease is characterized by nephromegaly, which in 60% of patients is massive, being more than 4 s.d.…”

“…Discrete hyperechoic foci may occur, which are believed to be calcifications. 2,5 These echogenic foci are believed to correlate with renal failure. 5 Renal size stabilizes and may decrease over time if the patient survives.…”