OBJECTIVE: To explore the genetic characteristics of a fetus affected with Structural heart defects and renal anomalies syndrome (SHDRA). METHODS: A pedigree with SHDRA (fetus and the parents) who had visited the Affiliated Women and Children's Hospital of Ningbo University in April 2023 was selected as the study subject. Clinical data of the family were collected. A total of 10 mL of amniotic fluid cells from the fetus and 5 mL of peripheral blood samples from the parents were collected for genomic DNA extraction. Trio whole-exome sequencing (Trio-WES) was performed, and Sanger sequencing was used to validate candidate variants in the family. The identified variants were classified according to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the "ACMG Guidelines). Relevant research literature on SHDRA in domestic and international databases were searched for literature review. This study was approved by the Affiliated Women and Children's Hospital of Ningbo University (Ethics No. EC2023-094). RESULTS: In this family, prenatal ultrasound at 18 weeks of gestation revealed left renal multicystic dysplasia in the fetus. After birth, the infant exhibited an ostium secundum atrial septal defect, patent ductus arteriosus, and left renal multicystic dysplasia. Trio-WES revealed that the fetus had carried c.344dup (p.L116Afs*32) and c.90_104dup (p.Ala31_Ala35dup) compound heterozygous variants in the TMEM260 gene, which were respectively inherited from its father and mother. According to the ACMG guidelines, the c.344dup (p.L116Afs*32) and c.90_104dup (p.Ala31_Ala35dup) variants were classified as pathogenic (PM2_Supporting+PVS1+PP4) and likely pathogenic (PM2_Supporting+PM4+PM3+PP4), respectively. According to the literature search strategy set for this study, a total of 6 literature was retrieved, involving 25 SHDRA patients from 20 families. Together with the patients in this study, there were 14 TMEM260 gene variants, most of which were frameshift variants (7 types) and had located in exons 3, 11 and 13. The main clinical features of SHDRA were congenital heart malformation, renal abnormality and neurodevelopmental abnormality, and there was a lack of genotype-phenotype correlation. CONCLUSION The c.344dup (p.L116Afs*32) and c.90_104dup (p.Ala31_Ala35dup) variants of the TMEM260 gene probably underlay the SHDRA in this family. Above finding has provided a basis for clinical diagnosis and genetic counseling for the family.
Humans ; Female ; Pedigree ; Membrane Proteins/genetics* ; Male ; Heart Defects, Congenital/genetics* ; Kidney/abnormalities* ; Pregnancy ; Adult ; Kidney Diseases/congenital* ; Exome Sequencing ; Mutation ; Genetic Testing

BACKGROUND AND OBJECTIVES: There are few reports on renal dysfunction in the remote period after biventricular repair, and biomarkers for early detection of renal dysfunction are not well understood. We examined whether early fluctuation of biomarkers of renal function occurs in the remote period after biventricular repair in patients with congenital heart disease (CHD). METHODS: Fourteen patients with CHD after biventricular repair were included. The examination values obtained by cardiac catheterization test and renal function indices based on blood and urine sampling were compared. RESULTS: The median estimated glomerular filtration rate (eGFR) of creatinine was 113 mL/min/1.73 m2, and the median eGFR of cystatin C was 117 mL/min/1.73 m2. A urine albumin-to-creatinine ratio (UACR) ≥10 mg/gCr was considered a risk factor for cardiovascular disease in 6 (43%) patients. There was a significant difference in right ventricular ejection fraction and deviation in right ventricular end-diastolic volume from the normal value between the 2 groups divided by UACR. Cyanosis before biventricular repair was noted in 2 (25%) patients with UACR < 10 mg/gCr and in 4 (67%) patients with UACR ≥10 mg/gCr. CONCLUSIONS: Increased UACR was noted in 43% of patients. In patients with UACR ≥10 mg/gCr, right heart system abnormality was observed, and several patients had cyanosis before radical treatment. Measurement for UACR may be able to detect renal dysfunction early in the postoperative remote period.
Biomarkers ; Cardiac Catheterization ; Cardiac Catheters ; Cardiovascular Diseases ; Creatinine ; Cyanosis ; Cystatin C ; Glomerular Filtration Rate ; Heart ; Heart Defects, Congenital ; Humans ; Kidney ; Reference Values ; Risk Factors ; Stroke Volume

Congenital Abnormalities ; pathology ; Endometrial Neoplasms ; pathology ; Female ; Humans ; Kidney ; abnormalities ; pathology ; Kidney Diseases ; congenital ; pathology ; Middle Aged ; Mullerian Ducts ; abnormalities

BACKGROUND: Pincer nail deformity is a transverse overcurvature of the nail. This study aimed to define the anatomical characteristics of pincer nail deformity and to evaluate the surgical outcomes. METHODS: A retrospective review was conducted on 20 cases of pincer nail deformity of the great toe. Thirty subjects without pincer nail deformity or history of trauma of the feet were selected as the control group. Width and height indices were calculated, and interphalangeal angles and base widths of the distal phalanx were measured with radiography. We chose the surgical treatment methods considering perfusion-related factors such as age, diabetes mellitus, kidney disease, and peripheral vascular disease. The zigzag nail bed flap method (n=9) and the inverted T incision method (n=11) were used to repair deformities. The outcomes were evaluated 6 months after surgery. RESULTS: The interphalangeal angle was significantly greater in the preoperative patient group (14.0degrees+/-3.6degrees) than in the control group (7.9degrees+/-3.0degrees) (P<0.05). The postoperative width and height indices were very close to the measurements in the control group, and most patients were satisfied with the outcomes. CONCLUSIONS: We believe that the width and height indices are useful for evaluating the deformity and outcomes of surgical treatments. We used two different surgical methods for the two patient groups with respect to the perfusion-related factors and found that the outcomes were all satisfactory. Consequently, we recommend taking into consideration the circulatory condition of the foot when deciding upon the surgical method for pincer nail deformity.
Congenital Abnormalities* ; Diabetes Mellitus ; Foot ; Humans ; Kidney Diseases ; Nails, Ingrown ; Onychomycosis ; Osteophyte ; Peripheral Vascular Diseases ; Radiography ; Retrospective Studies ; Toes

No abstract available.
Acute Disease ; Adult ; Anti-Bacterial Agents/therapeutic use ; Choristoma/*complications/radiography ; Escherichia coli Infections/diagnosis/drug therapy/*microbiology ; Female ; Hernias, Diaphragmatic, Congenital/*complications/radiography ; Humans ; *Kidney ; Predictive Value of Tests ; Pyelonephritis/diagnosis/drug therapy/*microbiology ; Thoracic Diseases/*complications/radiography ; Tomography, X-Ray Computed ; Treatment Outcome

Crossed fused renal ectopia is a rare anomaly and may be associated with pelvic ureteric junction obstruction (PUJO). The L-shaped fusion variety is even rarer. We report such a case with a crossed fused ectopic pelvic kidney (L-type) with PUJO and its successful laparoscopic management. Through this report we emphasize the importance of adequate preoperative imaging and intraoperative details to avoid mishaps.
Adolescent ; Female ; Humans ; Kidney/*abnormalities ; Kidney Diseases/*complications/congenital/surgery ; Kidney Pelvis/*surgery ; Laparoscopy/*methods ; Reconstructive Surgical Procedures/*methods ; Ureter/*surgery ; Ureteral Obstruction/etiology/*surgery ; Urologic Surgical Procedures/methods

Humans ; Infant, Newborn ; Kidney ; abnormalities ; Male ; Polycystic Kidney Diseases ; congenital

Aged ; Aortic Valve ; surgery ; Cyclosporine ; therapeutic use ; Female ; Heart Defects, Congenital ; drug therapy ; surgery ; Heart Valve Diseases ; drug therapy ; surgery ; Heart Valve Prosthesis ; Humans ; Immunosuppressive Agents ; therapeutic use ; Kidney Transplantation ; Mycophenolic Acid ; analogs & derivatives ; therapeutic use ; Transplant Recipients

No abstract available.
Child ; Humans ; Hydronephrosis/*congenital/diagnosis/etiology ; Male ; Multicystic Dysplastic Kidney/diagnosis/*etiology ; Polyps/*complications/diagnosis/surgery ; Ureteral Diseases/complications/diagnosis/surgery ; Ureteral Obstruction/diagnosis/*etiology

CATCH 22 Syndrome is caused by chromosome 22q11.2 microdeletion, characterized by developmental abnormalities of the third and fourth pharyngeal pouches. It has a prevalence estimated at 1:3,000-1:9,000. Most deletions occurs sporadic, but autosomal dominant inheritance observed in 6-10% of cases. CATCH22 often diagnosed due to hypocalcemia during neonatal period or decreased immunity or facial defect, so it is very rare being diagnosed CATCH22 in adulthood. We report a 57 year old female who referred to mental change due to hypocalcemia and is diagnosed CATCH22. She was presented with hypoparathyroidism, single kidney due to renal agenesis, and mild facial defect. Our patient responded well to calcium and vitamin D treatment and she is on follow-up in outpatient clinic.
Ambulatory Care Facilities ; Calcium ; Congenital Abnormalities ; DiGeorge Syndrome ; Female ; Follow-Up Studies ; Humans ; Hypocalcemia ; Hypoparathyroidism ; Kidney ; Kidney Diseases ; Prevalence ; Vitamin D ; Wills