Cystic Kidney Disease: An Early Manifestation of a Rare Syndrome
DOI:
https://doi.org/10.71749/pkj.32Keywords:
Child, Chromosomes, Human, Pair 17, Kidney Diseases, Cystic, PyelectasisAbstract
Pediatric cystic kidney diseases include a diversity of hereditary or non‐hereditary conditions, whose phenotypic presen‐ tation can vary from asymptomatic to end‐stage renal disease. We report a case of a male with a prenatal diagnosis of pyelectasis. Throughout the first two years of life, serial renal ultrasound showed regression of pyelectasis, but increased renal echogenicity, first identified at three months‐old. The family history of renal diseases was negative. Voiding cystourethrography showed no signs of vesicoureteral reflux and the MAG3 renogram revealed equally functioning kidneys. At 29 months‐old, elevated transaminases and two cortical cysts were detected, raising the suspicion of a cystic kidney disease. A hepatic biopsy showed no signs of fibrosis. He was tested for autosomal recessive polycystic kidney disease (ARPKD), which was negative. Renal ultrasound showed an increase in the number of cysts bilaterally, with diffuse hyperechogenicity and reduction of parenchymal‐sinus differ‐ entiation. Throughout the years, he maintained normal blood pressure and elevated transaminases, with rising serum creatinine from the age of 13 years. A NGS panel for cystic diseases detected 17q12 deletion syndrome, which causes renal cysts and other urinary tract malfunctions, and may also present with mature‐onset diabetes of the young type 5 (MODY5) diabetes, hyperparathyroidism, altered hepatic function and behavioral and psychiatric conditions. On the last appointment (15 years‐old), ultrasound showed bilateral cysts (10 mm), worsened renal function (glomerular filtration rate (GFR) of 71 mL/min/1.73 m2), hypomagnesemia under treatment, and normal transaminases and glycemia. In this case, an atypical presentation of cystic kidney disease led to an extended investigation resourcing to other genetic panels, allowing the etiological diagnosis and enabling the early identification and monitorization of possible extra‐renal comorbidities commonly associated with this syndrome.Downloads
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Copyright (c) 2024 Catarina Leuzinger-Dias, Joana P. Ramos, Marta Machado, Carolina Cordinhã, Carmen do Carmo, Clara Gomes (Author)
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