IllnessMegacystis, LUTO; differential diagnosis

NGS +

Congenital lower urinary tract obstruction (LUTO) generally manifests as urinary bladder outflow obstruction, which may represent an anatomic blockage or a functional obstruction. Severe forms of LUTO are usually diagnosed prenatally on the basis of an overextended bladder that fails to empty when the upper urinary tract is dilated. Mild forms manifest postnatally, often with recurrent urinary tract infections. More severe forms cause oligohydramnios and are associated with dysplastic renal malformations that may occur secondarily to LUTO. LUTO is the leading cause of end-stage renal disease in children. The DNA diagnostic yield is round about 50%. Therefore, an inconspicuous molecular genetic result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK540960/

doi: 10.1016/j.ajhg.2019.03.023

• Alias: Lower urinary tract obstruction, LUTO
• Allelic: ADULT syndrome (TP63)
• Allelic: Aortic aneurysm, familial thoracic 4 (MYH11)
• Allelic: Aortic aneurysm, familial thoracic 6 (ACTA2)
• Allelic: Aortic aneurysm, familial thoracic 7 (MYLK)
• Allelic: Cardiac valvular dysplasia, XL (FLNA)
• Allelic: Congenital short bowel syndrome (FLNA)
• Allelic: FG syndrome 2 (FLNA)
• Allelic: Frontometaphyseal dysplasia 1 (FLNA)
• Allelic: Hay-Wells syndrome (TP63)
• Allelic: Heterotopia, periventricular, 1 (FLNA)
• Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
• Allelic: Limb-mammary syndrome (TP63)
• Allelic: Lung cancer susceptibility 2 (CHRNA3)
• Allelic: Melnick-Needles syndrome (FLNA)
• Allelic: Moyamoya disease 5 (ACTA2)
• Allelic: Orofacial cleft 8 (TP63)
• Allelic: Otopalatodigital syndrome, type I + II (FLNA)
• Allelic: Rapp-Hodgkin syndrome (TP63)
• Allelic: Split-hand/foot malformation 4 (TP63)
• Allelic: Terminal osseous dysplasia (FLNA)
• Bladder dysfunction, autonomic, with impaired pupillary reflex + secondary CAKUT (CHRNA3)
• Ectrodactyly, ectodermal dysplasia + cleft lip/palate syndrome 3 (TP63)
• Lower urinary tract obstruction, congenital (BNC2)
• Megabladder, congenital (MYOCD)
• Megacystis-microcolon-intestinal hypoperistalsis syndrome (MYLK)
• Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MYH11)
• Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 (LMOD1)
• Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 (MYL9)
• Multisystemic smooth muscle dysfunction syndrome (ACTA2)
• Prune belly syndrome (CHRM3)
• Urofacial syndrome 1 (HPSE2)
• Urofacial syndrome 2 (LRIG2)
• Visceral myopathy (ACTG2)
• Visceral myopathy 2 (MYH11)