Tetsuya Abe, Togo Aoyama, Keiko Sano, Ryoma Miyasaka, Takuya Yamazaki, Yukari Honma, Hiroshi Tominaga, Maoko Ida, Aya Arao, Mayuko Sakakibara, Keiko Hashimoto, Haruka Takahashi, Takeshi Sakai, Shokichi Naito, Toshimi Koitabashi, Takashi Sano, Yasuo Takeuchi
BACKGROUND: Tetralogy of Fallot is the most common cyanotic congenital heart disease. Patients with the condition have a high risk of developing chronic kidney disease. Treatment of kidney disease in patients with complex hemodynamics presents unique challenges. However, there are very few reports on the treatment of end-stage renal failure in patients with tetralogy of Fallot. CASE PRESENTATION: We present a rare case of peritoneal dialysis in a 47-year-old man with tetralogy of Fallot who had not undergone intracardiac repair...
July 15, 2020: BMC Nephrology
Melissa K Robinson, Kristi Coe, Wanda T Bradshaw
BACKGROUND: A genetic disorder should be considered when an infant presents with multiple congenital anomalies. Because of the acute presentation of an infant with multiple life-threatening defects, a genetic diagnosis of a rare disorder took weeks to delineate. CLINICAL FINDINGS: This case describes a late preterm infant who presented at birth with congenital diaphragmatic hernia, tetralogy of Fallot, cleft lip, low-set ears, and hypertelorism. PRIMARY DIAGNOSIS: Donnai-Barrow syndrome was the final diagnosis confirmed by a defect observed on the LRP2 (2q31...
July 7, 2020: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
Romy van de Putte, Gabriel C Dworschak, Erwin Brosens, Heiko M Reutter, Carlo L M Marcelis, Rocio Acuna-Hidalgo, Nehir E Kurtas, Marloes Steehouwer, Sally L Dunwoodie, Eberhard Schmiedeke, Stefanie Märzheuser, Nicole Schwarzer, Alice S Brooks, Annelies de Klein, Cornelius E J Sloots, Dick Tibboel, Giulia Brisighelli, Anna Morandi, Maria F Bedeschi, Michael D Bates, Marc A Levitt, Alberto Peña, Ivo de Blaauw, Nel Roeleveld, Han G Brunner, Iris A L M van Rooij, Alexander Hoischen
Background: The VATER/VACTERL association (VACTERL) is defined as the non-random occurrence of the following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal-Esophageal, Renal, and Limb anomalies. As no unequivocal candidate gene has been identified yet, patients are diagnosed phenotypically. The aims of this study were to identify patients with monogenic disorders using a genetics-first approach, and to study whether variants in candidate genes are involved in the etiology of VACTERL or the individual features of VACTERL: Anorectal malformation (ARM) or esophageal atresia with or without trachea-esophageal fistula (EA/TEF)...
2020: Frontiers in Pediatrics
Philippe Mauriat, Mirela Bojan, Sylvie Soulie, Hélène Foulgoc, Nadir Tafer, Alexandre Ouattara
BACKGROUND: Grown-up congenital heart (GUCH) patients represent a growing population with a high morbidity risk when undergoing reparative surgery. A main preoperative feature is right ventricular failure, which represents a risk factor for postoperative low cardiac output syndrome. Levosimendan has a potentially beneficial effect. This retrospective study included consecutive GUCH patients with surgeries in a tertiary cardiothoracic centre between 01-01-2013 and 01-10-2017, to test the hypothesis that the postoperative use of levosimendan might be associated with shorter time of mechanical ventilation, when compared with the use of milrinone...
July 9, 2020: Annals of Intensive Care
Ashley R Jackson, Christina B Ching, Kirk M McHugh, Brian Becknell
Congenital anomalies of the kidney and urinary tract (CAKUTs) represent the leading cause of chronic kidney disease and end-stage kidney disease in children. Increasing evidence points to critical roles for the urothelium in the developing urinary tract and in the genesis of CAKUTs. The involvement of the urothelium in patterning the urinary tract is supported by evidence that CAKUTs can arise as a result of abnormal urothelial development. Emerging evidence indicates that congenital urinary tract obstruction triggers urothelial remodelling that stabilizes the obstructed kidney and limits renal injury...
August 2020: Nature Reviews. Urology
Dany Hage, Joe Iwanaga, Aaron S Dumont, R Shane Tubbs
Caudal regression syndrome (CRS) is a rare congenital variation. A high incidence of renal and genitourinary malformations has been observed in patients with CRS, with the most common being neurogenic bladder and renal agenesis. We report a rare case report documenting both CRS and a pelvic kidney found during a diagnostic magnetic resonance imaging. Although renal anatomy variants are found in patients with CRS, a pelvic kidney is normally not part of the constellation of findings in this malformation. As seen in our patient, a pelvic kidney should be considered in patients suspected of having CRS...
July 10, 2020: Anatomy & Cell Biology
Chun-An Chen, Emeline Crutcher, Harinder Gill, Tanya N Nelson, Laurie A Robak, Marjolijn C J Jongmans, Rolph Pfundt, Chitra Prasad, Roberta A Berard, Madeleine Fannemel, Eirik Frengen, Doriana Misceo, Keri Ramsey, Yaping Yang, Christian P Schaaf, Xia Wang
Congenital heart defects and skeletal malformations syndrome (CHDSKM) is a rare autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities, and failure to thrive. CHDSKM is caused by germline mutations in ABL1. To date, three variants have been in association with CHDSKM. In this study, we describe three de novo missense variants, c.407C>T (p.Thr136Met), c.746C>T (p.Pro249Leu), and c.1573G>A (p.Val525Met), and one recurrent variant, c.1066G>A (p.Ala356Thr), in six patients, thereby expanding the phenotypic spectrum of CHDSKM to include hearing impairment, lipodystrophy-like features, renal hypoplasia, and distinct ocular abnormalities...
July 9, 2020: Human Mutation
Mohamed H Al-Hamed, John A Sayer, Nada Alsahan, Maha Tulbah, Wesam Kurdi, Qamariya Ambusaidi, Wafaa Ali, Faiqa Imtiaz
INTRODUCTION: Congenital anomalies of the kidney and urinary tract (CAKUT) are a group of abnormalities that affect structure of the kidneys or other structures of the urinary tract. The majority of CAKUT are asymptomatic and are diagnosed prenatally by ultrasound scanning or found incidentally in postnatal life. CAKUT varies in severity and may lead to life-threatening kidney failure and end-stage kidney disease. Renal agenesis, a severe form of CAKUT, is a congenital absence of one or both kidneys...
July 8, 2020: Journal of Nephrology
Antonio Catelli, Giovanni Loiudice, Antonio Corvino, Anna Castaldo, Umberto Marcello Bracale, Mario Quarantelli, Pietro Venetucci
Renal arteriovenous fistula is classified into idiopathic, acquired and congenital. Endovascular therapy has become the gold standard compared to surgery. We present the embolization procedure of a renal fistula postbiopsy in a 57-year-old female patient through the use of St. Jude Medical Amplatzer vascular Plug IV. Although numerous embolizing agents are available, plug type IV has numerous advantages in terms of procedure times, speed of embolization and precision of the occlusion, but with a relative increase in costs...
September 2020: Radiology Case Reports
Korhan Tuncer, Gizem Kilinc, Ismail Sert, Goksever Akpinar, Cem Tugmen
INTRODUCTION Zinner's Syndrome is a triad of mesonephric duct anomalies comprising unilateral renal agenesis, seminal vesicle cyst, and ejaculatory duct obstruction. In this study, we present a kidney recipient with ectopic ureter associated with Zinner's syndrome and a literature review. CASE PRESENTATION A 59-year-old male with a history of chronic kidney disease and left renal agenesis underwent deceased donor kidney transplantation. After securing optimal renal functions, the patient underwent abdominal computed tomography (CT) scan for the seroma that occurred under the incision...
May 2020: Revista da Associação Médica Brasileira
Yukie Izumita, Satsuki Nishigaki, Mari Satoh, Noriyuki Takubo, Chikahiko Numakura, Ikuko Takahashi, Shun Soneda, Yoshifusa Abe, Hotaka Kamasaki, Yoshiaki Ohtsu, Junko Igaki, Yukihiro Hasegawa, Keisuke Nagasaki
BACKGROUND: Although Turner syndrome (TS) is frequently associated with congenital anomalies of the kidney-urinary tract (CAKUT), which is a major cause of pediatric chronic kidney disease, renal function in TS is usually considered normal. The present study aimed to analyze the frequency of renal dysfunction and CAKUT in pediatric patients with TS. METHODS: Our study included 122 patients with TS between the ages of 2 and 18 years from 30 hospitals across Japan...
July 8, 2020: Congenital Anomalies
Benjamin Doty, Elaine Kim, Jeremiah Phelps, Peter Akpunonu
BACKGROUND Brugada phenocopies (BrP) are clinical and electrocardiographic (ECG) entities elicited by reversible medical conditions speculated to have pathogenesis rooted in ion current imbalances or conduction delays within the myocardial wall. During an inciting pathologic condition, it produces ECG patterns identical to those of congenitally-acquired Brugada syndrome and subsequently returns to normal ECG patterns upon resolution of the medical condition. This case report describes a 26-year-old man presenting to the Emergency Department (ED) for suspected heroin overdose with a rare ECG consistent with BrP secondary to acute hyperkalemia...
July 8, 2020: American Journal of Case Reports
Laura Demaeyer, Serge Holz, Didier Pamart, Steven Taylor, Michel Naudin
BACKGROUND: Zinner Syndrome is a congenital pathology due to an embryologic anomaly occurring between the 4th and 13th gestational week. This embryologic defect leads to unilateral renal agenesis, ipsilateral seminal vesicle cyst and ejaculatory duct obstruction. Most of the time patients are asymptomatic and do not need any treatment but for symptomatic cases, only surgical removal of the cyst and seminal vesicle are 100% effective. CASE: The case presented here is that of a healthy 33-year old man with symptomatic right seminal vesicle cyst and ipsilateral renal agenesis...
2020: International Journal of Surgery Case Reports
N Corsten-Janssen, K Bouman, J C D Diphoorn, A J Scheper, R Kinds, J El Mecky, H Breet, J B G M Verheij, R Suijkerbuijk, L K Duin, G T R Manten, I M van Langen, R H Sijmons, B Sikkema-Raddatz, H Westers, C C van Diemen
OBJECTIVE: Conventional genetic tests (QF-PCR and SNP-array) only diagnose ~40% of fetuses showing ultrasound abnormalities. Rapid Exome Sequencing (rES) may improve this diagnostic yield, but includes challenges such as uncertainties in fetal phenotyping, variant interpretation, incidental unsolicited findings and rapid turnaround times. In this study we implemented rES in prenatal care to increase diagnostic yield. METHODS: We prospectively studied 55 fetuses...
July 6, 2020: Prenatal Diagnosis
Arwa Alsubait, Wadha Aldossary, Mamoon Rashid, Amani Algamdi, Bahauddeen M Alrfaei
Glaucoma is a serious disease that can lead to irreversible loss of vision. Patients with primary congenital glaucoma may have elevated intraocular pressure. Hypertension causes damages to intraocular structures and affects the Schlemm's canal, collector channels, trabecular meshwork, and optic nerve's molecular structures. An important gene that is defective in patients with glaucoma is CYP1B1, a gene associated with optic nerve deterioration. CYP1B1is a key enzyme involved in the metabolism of exogenous and endogenous compounds...
2020: Journal of Cancer
Michael Buettcher, Johannes Trueck, Anita Niederer-Loher, Ulrich Heininger, Philipp Agyeman, Sandra Asner, Christoph Berger, Julia Bielicki, Christian Kahlert, Lisa Kottanattu, Patrick M Meyer Sauteur, Paolo Paioni, Klara Posfay-Barbe, Christa Relly, Nicole Ritz, Petra Zimmermann, Franziska Zucol, Rita Gobet, Sandra Shavit, Christoph Rudin, Guido Laube, Rodo von Vigier, Thomas J Neuhaus
The kidneys and the urinary tract are a common source of infection in children of all ages, especially infants and young children. The main risk factors for sequelae after urinary tract infections (UTI) are congenital anomalies of the kidney and urinary tract (CAKUT) and bladder-bowel dysfunction. UTI should be considered in every child with fever without a source. The differentiation between upper and lower UTI is crucial for appropriate management. Method of urine collection should be based on age and risk factors...
July 3, 2020: European Journal of Pediatrics
Sajid S Qureshi, Monica Bhagat, Kamlesh Verma, Subhash Yadav, Maya Prasad, Tushar Vora, Girish Chinnaswamy, Nayana Amin, Vasundhara Smriti, Akshay Baheti, Siddharth Laskar, Nehal Khanna, Mukta Ramadwar, Sneha Shah
INTRODUCTION: Non-Wilms renal tumors represent a compelling subset of childhood renal tumors. However, their relative rarity renders accurate diagnosis, and therapy challenging which in some instance is inferred from their adult counterparts. OBJECTIVE: To describe the incidence and analyze the diagnostic challenges, therapies and, outcomes of non-Wilms renal tumors at the largest tertiary cancer centre in India. METHODS: All patients with histologically confirmed non-Wilms renal tumours diagnosed in the paediatric oncology unit of Tata Memorial Hospital between 2006 and 2019 were included...
August 2020: Journal of Pediatric Urology
Dong Wang, Guixia Tong, Rui Dong, Yuqiang Lyu, Min Gao, Jian Ma, Ya Wan, Huanping Pang, Zhongtao Gai, Yi Liu
OBJECTIVE: To explore the genetic basis for a child with clinically suspected nephronophthisis (NPHP). METHODS: Peripheral blood samples of the patient and her parents were collected subjected to high-throughput sequencing. Sanger sequencing was used to verify the gene variants. RESULTS: The patient, a 7-year-old girl with congenital blindness, was admitted to a local hospital due to repeated vomiting for 7-8 days and then transferred to author's hospital due to renal failure...
July 10, 2020: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Xue He, Huijun Shen, Haidong Fu, Chunyue Feng, Zhixia Liu, Yanyan Jin, Jianhua Mao
BACKGROUND: 13q33-q34 microdeletions are rare chromosomal aberrations associated with a high risk of developmental disability, facial dysmorphism, cardiac defects and other malformation of organs. It is necessary to collect and report evidence of this rare chromosome mutation to improve the prognosis of this rare disease. CASE PRESENTATION: We report a patient harboring an 11.56 Mb microdeletion at 13q33.1-34 region, which contains about 30 OMIM genes. Besides the common clinical manifestations such as facial dysmorphism, developmental delay, intellectual disability, epilepsy, and congenital heart disease, she also suffered from a reduced anogenital distance, hematuria and left renal hypoplasia...
July 2, 2020: BMC Pediatrics
Su-Jeong Lee, Jung-Eun Moon, Gi-Min Lee, Min-Hyun Cho, Cheol Woo Ko
Alport syndrome (AS) is a rare genetic disorder that causes progressive nephritis and is more common among males. Studies have reported an association between thyroid antibodies and hypothyroidism in patients with AS, but the relevance of this relationship is under debate. Prolonged untreated hypothyroidism induces short stature, abnormal pubertal development, and various other symptoms. However, children with long-standing hypothyroidism rarely present with signs of precocious puberty, or Van Wyk-Grumbach syndrome (VWGS)...
June 2020: Annals of Pediatric Endocrinology & Metabolism
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