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E-Poster Submission Deadline
Please prepare and upload your E-Poster no later than March 14, 2026 11.59PM CET. After this date, you will no longer be able to prepare and upload your E-poster and it will not be displayed and accessible on the congress website.
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Abstract titles should be brief and reflect the content of the abstract.
Menke disease is an X-linked recessive disorder with multisystemic involvement due to defect in copper metabolism, caused by pathogenic variants in the ATP7A gene. The clinical spectrum varies with the malfunction of one or more of the above cuproenzymes. The three phenotypes described include, classic Menkes disease, occipital horn syndrome (OHS) and ATP7A related distal motor neuropathy (DMN). Renal and urological complications include bladder diverticula, neurogenic bladder, vesicoureteral reflux, hydronephrosis, recurrent urinary tract infection, and tubulopathy including proteinuria, hypercalciuria, and hypokalemia. There is paucity of data on renaland urological involvement in MD
This retrospective study included children with an established biochemical and/or molecular diagnosis of Menkes disease from2005 to –2024. The clinical, laboratory and radiology data was collected fromthehospital electronic databaseof pediatric neurology and pediatric nephrology departments at a tertiary care center in South India.
We report data on 17 patients (16 boys) who presented to us with a median age of 75 (Range: 56-88) months. All children were symptomatic during infancy at a median age of 5 (range: 3-6) months and diagnosis was confirmed at a median age of 7 (range: , 5-12) months. The predominant presenting symptoms were epilepsy (12; 71%), developmental delay (16; 94%), neuroregression (5; 29%), recurrent aspiration pneumonia (3; 18%) or hypotonia (4; 24%). Genetic testing was performed in 15 patients and a pathogenic/likely pathogenic variant was detected in all individuals. Truncating variants were the most common, followed by missense variants. Neonatal complications were observed in 9 (53%) patients, with respiratory distress being the commonest.
Urogenital abnormalities were observed in 9/15 patients (60%); bladder diverticula in 4 (44%) and hydro/ hydroureteronephrosis in 2 (22%). Recurrent urinary tract infections were observed in 1 patient. All patients had normal estimated glomerular filtration rate >100 mL/min per 1.73 m2. Medullary nephrocalcinosis was noted in 1 patient. Sub-nephrotic range proteinuria was observed in 5/5 patients, hypercalciuria 1 of 2, hypocitraturia in 1 of 3, metabolic acidosis in 1 patient. Copper histidine therapy was adminsitered in 15 (88%) patients.
Urogenital abnormalities were frequent in children with MD. Though glomerular function was noted to be normal in all, tubular abnormalities were observed were observed in a small proportion. Careful monitoring and early management of renal tubular dysfunction has to be considered in children with MD.
