Rubinstein-Taybi syndrome (RSTS) can be caused by heterozygous mutations or deletions involving CREBBP or, less commonly, EP300. To date, only 15 patients with EP300 mutations have been clinically described. Frequently reported manifestations in these patients include characteristic facial and limb features, varying degrees of neurocognitive dysfunction, and maternal preeclampsia. Other congeni...

CKD, chronic kidney disease; ESRD, childhood onset end-stage renal disease; CAKUT, congenital anomalies of the kidney and urinary tract; GN, glomerulonephritis; HN, hypertension; HUS, hemolytic uremic syndrome. Rare causes include congenital NS, metabolic diseases, cystinosis. Miscellaneous causes depend on how such entities are classified. Chronic Kidney Disease data are from North American Pe...

Congenital anomalies of the kidney and urinary tract (CAKUT) account for more than 50% of abdominal masses found in neonates and involve about 0.5% of all pregnancies. CAKUT has a major role in renal failure, and increasing evidence suggests that certain abnormalities predispose to the development of hypertension and cardiovascular disease in adulthood. To understand the pathogenesis of human r...

Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Here, we report a male neonate, with the classical features of Emanuel syndrome.

anomalous origin of the left coronary artery from the pulmonary artery (alcapa) is a rare congenital cardiac malformation. we report three cases of alcapa who survived to adulthood. the first case was a 51-year-old woman who complained of typical chest pain that was diagnosed with alcapa using cardiac catheterization and coronary computed tomographic angiography (cta). the second case was a 30-...

Introduction: Infants born with congenital anomalies demand individualized nutritional evaluations and recommendations. The anatomical changes of neonatal surgical diseases create specific physiological constraints.Patients with different congenital anomalies have different nutritional support needs. It is essential to know the exact physiology of these anomalies in order to be able to manage a...

A congenital solitary kidney with multiple renal arteries is a rare congenital abnormality that can occur in the presence of multiple other anomalies. We describe an atypical case of a right congenital solitary kidney with three renal arteries (RA) one main RA and two additional renal arteries in a 75-year-old woman with uterine didelphys. The main RA had an intraluminal diameter larger than th...

AIM Renal agenesis is a fairly common congenital anomaly with an unknown definite etiology. Unilateral renal agenesis is much more common than bilateral renal agenesis, but it usually does not carry any major health consequence, as long as the other kidney is healthy. In some cases, renal agenesis may by associated with other congenital anomalies. We report a neonatal female patient born with u...

There are often duplicated ureter with types of congenital anomalies and associated clinical complications. The unilateral duplicated ureter was observed as an incidence result in usual dissection. During routine dissection of the body of an adult male with middle-aged 40-50 year old, the duality of unilateral incompletely ureter was seen in above. Two branches of ur...

Congenital anomalies of the kidney and urinary tract are the major cause of ESRD in childhood. Children with a solitary functioning kidney form an important subgroup of congenital anomalies of the kidney and urinary tract patients, and a significant fraction of these children is at risk for progression to CKD. However, challenges remain in distinguishing patients with a high risk for disease pr...