Anatomical Findings of Renal and Urological Abnormalities in Cardiac Catheterization of Children with congenital heart diseases – A Single Center Experience

Background and aims: Congenital heart disease (CHD) is described as an abnormality in the heart structure or intra-thoracic great vessels that leads to functional problems. Since most of these disorders require medical and surgical interventions identifying concomitant disorders such as renal and urinary tract abnormalities is of great importance in the management of these patients. The present study aimed to investigate the relative frequency of abnormal kidney and urinary tract findings in abdominal cineangiography during cardiac catheterization of patients with CHD in Shahid Modarres Cardiovascular Medical and Research Center. Methods: The present study was performed prospectively on 545 patients aged < 18 years with CHD who underwent cardiac catheterization and concurrent abdominal cineangiography in Shahid Modarres Cardiovascular, Medical and Research Center, Tehran, Iran during a three-year period. The required data were extracted using a researcher-made questionnaire from patients’ electronic medical files. Results: Of a total of 545 patients in this study, 26 had both CHD and renal or urinary tract malformation. Patent ductus arteriosus was the most common CHD in patients with renal or urinary tract malformations (odds ratio: 1.2, 95%, CI: 2.25–11.63). In this study, the most common renal and urinary malformations among CHD patients was partial duplication of the kidney followed by Ureteropelvic Junction Obstruction.Conclusion: Since the prevalence of renal and urinary tract malformations is higher in CHD patients, performance of concurrent abdominal cineangiography during cardiac catheterization may lead to early diagnosis and treatment as well as better pre- and post-operative management of patients.

Case Report: A Case Report and Literature Review of 3p Deletion Syndrome

Objective: The aim of the present study is to explore the clinical and genetic characteristics of 3p deletion syndrome to improve clinicians' understanding of the disease.Methods: The clinical manifestations, process of diagnosis and treatment, and genetic characteristics of an individual case of 3p deletion syndrome were analyzed. CNKI, Wanfang Data, and the Biomedical Literature Database (PubMed) were searched. The search time limit, using “3p deletion syndrome” and “BRPF1” as keywords, was from the creation of the database up to June 2020. Related data were reviewed.Results: The proband was a male child with general developmental and intellectual disabilities, special facial features and congenital heart disease. The child was the parents' first pregnancy and first born. Gene microarray analysis showed a 10.095 Mb deletion in the 3p26.3-p25.3 region, resulting in a heterozygous mutation of the BRPF1 gene; thus, the patient was diagnosed with 3p deletion syndrome. At the time of diagnosis, the child was 1 year of age and was responding to comprehensive rehabilitation training. A total of 29 well-documented cases were found in the literature, of which 19 cases had an onset within 1 year of birth, and mainly manifested with mental and motor development disabilities and abnormal facial features, with different gene deletions, depending on the size and location of the 3p deletion.Conclusion: The genetic test results of the child in this study indicated a heterozygous deletion of the BRPF1 gene on the short arm of chromosome 3, which was a unique feature of this study, since it was rarely mentioned in other reports of 3p deletion syndrome. The clinical phenotype of this syndrome is complex as it can include intellectual and motor development backwardness, low muscle tone, certain abnormal facial features (low hairline, bilateral ptosis, widely spaced eyes, a forward nose, left ear auricle deformity, a high-arched palate, a small jaw), and the deformation of systems such as the gastrointestinal tract and the urinary tract malformation or symptoms of epilepsy. As clinical manifestations can be relatively mild, the syndrome is easy to miss or misdiagnose. Clinical workers need to be aware of this disease when they find that children have special features, such as stunted growth, low muscle tone or ptosis, and it needs to be diagnosed through genetic testing. Most children are able to develop certain social skills after rehabilitation treatment.

Nonsyndromic Split Hand/ Foot Malformation: Ectrodactyly

The CaseA three year old girl came to our OPD with deformity of left hand called ectrodactyly. She had no other deformities, dysmorphic features and was developmentally appropriate. The X-ray of the hand showed normal radius, ulna and metacarpals but absence of phalanges of the middle three fingers of left hand. She was examined in detail for any ectodermal anomaly, clefting of lip or palate. USG abdomen, kidney and urinary tract was done to rule out any urinary tract malformation. She was finally referred to higher centre for reconstructive surgery for ectrodactyly.J Nepal Paediatr Soc 2016;36(1):103-104

Nephrolithiasis Caused by Ceftriaxone in a 3-Year-Old Child with Ureteropelvic Junction Obstruction

We report the case of a 3-year-old boy with urinary tract malformation (left sided stenosis of the ureteropelvic junction) which was precipitating factor for ensuing nephrolithiasis of the left kidney during the therapy with ceftriaxone. The treatment with spasmolytics was initiated, together with the forced parentheral hydration. After 3 weeks, there was no evidence of calculi in the urinary tract.