ABSTRACT
BACKGROUND: Townes-Brocks syndrome (TBS) is a rare autosomal dominant syndrome that is characterized by a triad of imperforate anus, dysplastic ears, and thumb malformations. Heterozygous variants of SALL1 are responsible for this syndrome. Renal structural abnormalities and functional impairments are often reported in TBS patients. CASE SUMMARY: We report a case of TBS in a Chinese family. The index patients showed obvious renal atrophy and renal failure. TBS was suggested after a physical examination and pedigree analysis. Whole exome sequencing revealed a heterozygous variant of SALL1. The variant (NM_001127892 c.1289_c.1290 insC) led to a read-frame shift of the encoded protein, which was confirmed by Sanger sequencing. The variant cosegregated with the phenotype among affected members. CONCLUSION: A novel variant in SALL1 gene may be the molecular pathogenic basis of this disorder.
ABSTRACT
Introduction: Renal vein thromboembolism is a severe complication of nephrotic syndrome. Small thrombus in the intra-kidney venous system cannot be recognized by ultrasonography. The current study was to investigate the kidney pathological features of intra-kidney venous thrombus and their values in clinical practice. Methods: Kidney pathological features of glomerular capillary dilatation and congestion, peritubular capillary dilatation and congestion, and intraglomerular neutrophil infiltration were screened and scored during kidney biopsy information interpretation. Eighty-four consecutive patients with these features and primary glomerulonephritis were analyzed, comparing to another 84 control patients without these features who were matched according to the pathological types of glomerulonephritis. Results: In the patients with pathological features of suspected intra-kidney venous thrombus, the levels of proteinuria (5.2 vs. 3.2 g/24 h, p = 0.005), serum creatinine (80.9 vs. 71.2 µmol/L, p < 0.001), platelet count (274.0 vs. 254.5 ×109/L, p = 0.020), D-dimer (0.2 vs. 0.2 mg/L, p = 0.002), and fibrin degradation products (1.9 vs. 1.0 mg/L, p = 0.003) were significantly higher than those in control patients. The levels of serum albumin (24.2 vs. 28.6 g/L, p = 0.003) and eGFR (92.1 vs. 103.9 mL/min/1.73 m2, p < 0.001) were significantly lower. The scores of these pathological features were positively correlated with the levels of D-dimer (r = 0.21, p = 0.05). During follow-up, 9 (10.7%) patients with pathological features of suspected intra-kidney venous thrombus developed venous thromboembolism, which was significantly more than that of control patients (0%, p = 0.006). Conclusions: Kidney pathological features could indicate intra-kidney venous thromboembolism, and their scores represent the possibility of thrombus. The notice of these features may provide clinical alerts for venous thromboembolism possibility.
ABSTRACT
BACKGROUND: Renal cysts and diabetes (RCAD) syndrome is an autosomal dominant diabetic renal disease. Precise molecular diagnosis of RCAD syndrome has proven valuable for understanding its mechanism and personalized therapy. CASE SUMMARY: A RCAD patient and her family were studied to investigate potential responsible genes by the whole exome sequencing (WES). Candidate pathogenic variants were validated by Sanger sequencing. The clinical characteristics of RCAD patient were collected from medical records. Unlike those typical RCAD patients, we observed renal manifestation and prediabetes phenotype, but not reproductive organ phenotype and hypomagnesaemia. A novel 7-bp deletion mutation in exon 4 of the hepatocyte nuclear factor 1B, NM_000458: c.882_888del (p.V294fs), was identified by WES and confirmed by Sanger sequencing. CONCLUSION: This novel mutation identified in a Chinese family with RCAD syndrome might be the molecular pathogenic basis of this disorder.