Sibel Yel

Altay D, et al. Pediatr Gastroenterol Hepatol Nutr. 2026 Jan;29(1):55-61. https://doi.org/10.5223/pghn.2026.29.1.55

Background Hypertension (HT) is an important risk factor in patients with congenital anomalies of the kidney and urinary tract (CAKUT), independent of the existing anomaly in childhood. This study aimed to investigate masked hypertension and/or blood pressure profiles in different subgroups with a normal glomerular filtration rate (GFR). Methods The study included participants from seven different pediatric nephrology centers in Türkiye. Ambulatory blood pressure monitoring (ABPM) was performed on patients aged 5–18 years, diagnosed with CAKUT, with a GFR above 100 ml/min/m², and normal office blood pressure measurements. Validated Mobil-O-Graph or Spacelabs devices were used in all centers. Results In total, 118 healthy control data and 322 patients with CAKUT were evaluated, consisting of 73 (22.7%) with agenesis, 79 (24.5%) with cystic dysplasia, 92 (28.6%) with vesicoureteral reflux, 18 (5.6%) with UPJ (ureteropelvic junction) obstruction, and 60 (18.6%) with other conditions. In all CAKUT patients, daytime systolic blood pressure (SBP) and both day and nighttime diastolic blood pressure (DBP) loads were significantly higher compared to the healthy control group (p < 0.05). Nocturnal hypertension was identified in 58 (18%) of 322 children, whereas none of the control group presented hypertension. Children with cystic dysplasia had the highest nighttime hypertension proportions (22.7%) when compared to other subgroups. All data revealed higher total systolic–diastolic SDS and total mean SDS in the cystic dysplasia subgroup (p < 0.05). Conclusions The findings underscore the importance of blood pressure monitoring in the follow-up of patients with CAKUT, especially those with cystic dysplasia, even in the absence of GFR decline. Graphical abstract A higher resolution version of the Graphical abstract is available as Supplementary information

A 6-month-old girl, previously diagnosed with cystic fibrosis (CF), was admitted to hospital for nephrolithiasis. Her parents were first-degree cousins. The patient underwent endoscopic stone management. Despite no family history of stones and medical treatment with potassium citrate, the patient developed recurrent renal stones and atypical urinary tract infections during follow-up. Basic investigations were all normal. Due to consanguinity and early presentation of nephrolithiasis, metabolic causes such as cystinuria and hyperoxaluria were considered. Cystinuria was excluded due to normal cystine levels. High urinary oxalate excretion was found as expected due to absorptive (secondary) hyperoxaluria in CF patients. An early stone burden in the patient with a history of medical treatment and consanguinity led us to perform a genetic testing. Genetic testing revealed a missense homozygous variant in exon 1 of the AGXT gene. The patient was diagnosed with primary hyperoxaluria type 1. Two rare life-threatening genetic diseases were found together in the same child.