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The chromosome microdeletion syndrome of the partial part of the long arm of the chromosome 17 ( 17q12), is characterized by cystic kidney disease, juvenile diabetes type 5, neurodevelopmental disorders like cognitive disorders, delayed maturational development, autistic traits and dysmorphic features like wide forehead and Hollow eyes.
Within the affected genes is the HNF-1B. This one is involved in the organogenesis of several tissues such as pancreas, liver and genitourinary tract. There is a wide variability of kidney involvement since fetal death due to prenatal kidney failure to normal kidney function in the adult, without being any correlation with the genotype.The hydroelectrolytic manifestations may present as hypomagnesemia hypocalcemia, hyperuricosuria and y rare cases hypokalemia was described
Clinical kidney manifestations are predominant affecting almost 80-85% of cases. The disease can present as renal agenesis, ectopic kidney, cystic dysplastic kidney, horseshoe kidney disease or urinary tract anomalies. However, the most frequent clinical presentation is cystic dysplastic kidney with predominant cortical cysts.
The association of the mutation or loss of the HNF1B gene with the microdeletion syndrome is the cause of the kidney abnormalities.
The neurological manifestations may be seizures, autism, electroencephalographic alterations
Retrospective collection of data from a clinical case to present a rare case of a chromosome microdeletion syndrome of the partial part of the long arm of the chromosome 17 ( 17q12), which diagnosis was made at the consultation to the nephrologist because of hypokalemia.
A 21 years old patient who had multiple hospitalizations because of hypokalemia since 2011s. The last admission to hospital was in 2016 because of hypokalemia and seizures After Hospital discharged he was referred to the Nephrologist. At the first consultation he had a striking behavior that it seemed autistic and his face showed delayed maturation. An electroencephalogram and a brain nuclear magnetic resonance were done which were normal. A kidney ultrasound and a computed tomography of the abdomen and pelvis were normal too. The urine analysis showed Ku: 36Meq/24hs, Nau: 126 Meq/24hs.Renin dosage, aldosterone, TSH, T4, cortisol, urea, creatinine, uric acid, magnesemia, acid base state were all normal. Having ruled out other causes of hypokalemia It was decided to advance with genetic studies arriving at the diagnosis of “17q12 DELETION SYNDROME”
It is of interest that Hypokalemia is a very infrequent kidney metabolic disorder in the 17q12 microdeletion syndrome and the most striking thing is that in this case the diagnosis of the Syndrome was made due to hypokalemia. In most of cases we reach to the diagnosis by complementary medical studies but we must take into account and be alert that some genetic disorders may be the cause of it and require most complex studies