Abstract

FERNANDEZ RODRIGUEZ, Yaribel; SARDINA SOLIS, Rosa María  and  GARCIA ZAPATA, Hubert. Robinow syndrome associated with chronic kidney failure in terminal stage. MEDISAN [online]. 2021, vol.25, n.2, pp. 460-469.  Epub Mar 24, 2021. ISSN 1029-3019.

The case report of an 18 years adolescent is described with pathological history of a surgery due to hypertelorism in his first year of life who was assisted in the Nephrology Service of Dr. Juan de la Cruz Martínez Maceira Northern Teaching Children Hospital in Santiago de Cuba, due to a marked decrease of the renal function, reason why he required substitute therapies. His condition persisted for more than 3 months and it was considered as a chronic kidney failure in end stage. Several complementary exams were carried out to find out the cause and other specialties participated in the diagnosis, as Clinical Genetics, due to the presence of dysmorphic disorders; finally, Robinow syndrome was diagnosed. The patient remained with hemodialysis for 2 years until her condition was stable to receive a renal transplant.

Keywords : Robinow syndrome; chronic renal insufficiency; chronic kidney failure; renal dialysis.

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