Nephrocalcinosis is often accompanied by kidney stone disease. In recent years, more and more nephrocalcinosis has been found to be caused by a monogenic disease, and its pathogenesis has not been fully elucidated. With the development of molecular genetics, more than 30 genes have been found to be the causative genes of nephrocalcinosis. At the same time, with the widespread development of genetic testing technology, more patients have received early diagnosis and timely intervention. This article reviews the clinical and basic research progress of monogenic nephrocalcinosis.

Objective To design technique of local flap transposition to refine the aesthetic appearance of reconstructed fingers by toes transfer.Methods Nine cases with 21 reconstructed finger were included,which involved 6 males and 3 females with an average age of 21.8 years(range,18-34years).A lingual contour flap with a lateral pedicle Was shifted from the inflated distal pulp to the narrow middle part of the"finger"to refine the aesthetic appearance.Overall results were evaluated in terms of the survival of the flap,the appearance improvement and the functional influence of the reconstructed finger.Results All of the flaps survived and healed perfectly.After a mean follow-up of 9.3 months(range,6-12months),the appearance of the reconstructed fingers were impmved apparently.There was little influence on the function of the finger.The results showed that all the patients gained more acceptable fingers.Conclusion From our experience,local flap transposition is a useful method for remolding of reconstructed fingers by toes transfer.

Primary hyperoxaluria (PH) are important causes of kidney stone and chronic kidney stone disease in children. Recurrent kidney stone disease and nephrocalcinosis should alter the physician to the possibility of an inborn error of metabolism as the underlying cause. Unfortunately, the lack of recognition of genotype and phenotype of PH resulted in an unacceptable delay in diagnosis and treatment, sometimes with grave consequences. This paper review the characteristics of genotype and phenotype, genotype-phenotype correlation, current treatment and future gene therapy of PH.

In recent years, multiple monogenic causes of nephrolithiasis have been identified.Monogenic nephrolithiasis can lead to renal calculus, nephrocalcinosis, extrarenal manifestations, renal insufficiency and renal failure.Advances in genetic testing techniques have improved the ability to obtain a definitive diagnosis of monogenic causes of kidney stone diseases efficiently and effectively.Similarly, advances in gene therapy technologies, especially gene editing, promise to change the way to treat patients with monogenic inherited nephrolithiasis.Now, the classification, cha-racteristics of genotype and phenotype, and the treatment of monogenic causes of nephrolithiasis were reviewed.

BACKGROUND: Mis Seven implant has become more and more popular in oral implant restoration, and the clinical application in dentate-deficient patients remains to be studied. OBJECTIVE: To explore the short-term effects of the Mis Seven implant system on fixed restorations in dentition loss. METHODS: Nineteen patients undergoing fixed dental prostheses with the Mis Seven system due to dentition loss at the Department of Implants of the Stomatological Hospital of Guangzhou Medical University between April 2015 and December 2017 were included. Three patients had missing maxillary and maxillary dentition and unilateral maxillary teeth. Six patients were loss of maxillary dentition, and there were 10 cases of unilateral mandibular dentition missing. The total dental implants were 134. All cases were implanted and fixed for one stage. Clinical examination, alveolar bone and inter-implant image performance and post-load repair effect at 6, 12 and 24 months of follow-up were used as evaluation indicators. RESULTS AND CONCLUSION: (1) In 134 implants, failure was in 2 cases due to surrounding tissue infection. The success rate of before implant restoration was 98.51％, and the success rate after repair was 100％. (2) The stability of dentition of 19 patients was good, showing good occlusion. No mechanical complications or biological complications occurred. The stability of the restoration was 100％. (3) The vertical absorption of bone tissue around all implants was less than 0.2 mm at 6, 12, 24 months after repair, suggesting that the implant has no obvious edge bone resorption. The gingival tissues around all implants were healthy, and no unhealed inflammation or hyperkeratosis appeared. (4) These results imply that the Mis Seven system in the dentition defect fixation exhibits good short-term clinical results.

Some kidney stones are caused by single gene mutations, and monogenic kidney stone diseases associated with purine metabolic disorder mainly including adenine phosphoribosyltransferase(APRT) deficiency, hypoxanthine-guanine phosphoribosyltransferase(HPRT)deficiency, hereditary xanthinuria(HX), and some diseases caused by gene mutations such as PRS1, SLC22A12, SLC2A9 and ABCG2. Such diseases can lead to abnormal metabolism of purine and uric acid, and then form 2, 8-dihydroxyadenine stones, uric acid stones or xanthine stones. This kind of diseases are rare, the genotype and phenotype of different types of monogenic diseases related to purine metabolism have their own characteristics and are not widely recognized. At present, the main treatment is medical therapy. Gene sequencing will make the diagnosis and find more disease-related genes or mutations. Gene editing, such as CRISPR/Cas9 technology, makes it possible to cure monogenic kidney stone diseases associated with purine metabolism disorder in the future.

Primary hyperoxaluria type 3 (PH3) is a rare monogenic nephrolithiasis caused by HOGA1 gene mutations. With the advancement of technology of genetic testing, the mutation site of PH3 patients can be clearly located, and the characteristics of genotype, phenotype, genotype-phenotype correlations are also gradually recognized. With the development of gene therapy, novel gene editing techniques and RNA interference treatments offer hope for the future of PH3 treatment. In this paper, the characteristics of genotype and phenotype, genotype-phenotype correlations of PH3 will be summarized and its future treatment will be prospected.

Primary hyperoxaluria (PH) is a rare autosomal recessive hereditary disease, characterized by calcium oxalate kidney stone and nephrocalcinosis caused by defects in enzymes of liver glyoxylate metabolism. Up to now, treatment options for PH are limited. Although medication treatment and liver transplantation can slow down the progression and mitigate the symptoms, the evidence for them turned out to be weak. In recent years, breakthroughs in biotechnology provide novel promising directions for drug development. Small interfering RNA drugs, such as lumasiran and nedosiran, selectively reduce hepatic expression of glycolate oxidase and lactate dehydrogenase respectively, reducing hepatic oxalate production and urinary oxalate levels in PH patients. Gene-editing, such as CRISPR/Cas9, will be a potential treatment method of PH. This review encompasses recent developments in the gene therapy of PH.

Renal abscess caused by fish bone ingestion is extremely rare and has not been reported in the literature. A male patient presented with a 1-week history of flank pain and a 2-day history of fever. Urinary ultrasound and CT scan showed an irregular hypodense lesion in the left kidney and blurred thickening of the descending colon wall. Three-dimensional CT reconstruction images revealed a needle-like foreign body, which perforated from the descending colonic lumen to the left kidney. The patient had accidentally eaten fish bone one week prior. On the basis of clinical data, the diagnosis of renal abscess caused by foreign body was suspected. Accordingly, laparotomy was performed, the abscess was drained, and the colon was repaired. The foreign body was confirmed to be fish bone. The postoperative condition of the patient was uneventful, and the patient remained well in the 3 months' follow-up without any further complaints.

IgG4-related disease (IgG4-RD) involving the ureter manifested as a ureteral tumor is rare. This paper reports a case of a female patient who was found with a mass at the left ureteropelvic junction for one week during physical examination. Urinary ultrasound and MRI showed a 3 cm mass at the left ureteropelvic junction with hydronephrosis, and the serum level of IgG4 was elevated. B-ultrasonic guided biopsy of the mass was performed. Histopathological findings showed lymphoplasmic infiltration and the ratio of IgG4/IgG positive cells>0.5. We finally diagnosed IgG4-RD and started using glucocorticoid for her treatment. One month later, CT-scan revealed that the tumor became smaller and the serum IgG4 decreased to the normal range.