Observations on the Curative Effect of a Holmium Laser Under a Flexible Ureteroscope in the Treatment of Endogenous Renal Cysts Combined with Renal Calculi

Background: To explore and analyse the curative effects of a holmium laser under a flexible ureteroscope in the treatment of endogenous renal cysts complicated with renal calculi. Methods: Seven patients with endogenous renal cysts and renal calculi were admitted to our hospital from April 2019 to April 2021. The renal calculi was smashed by a holmium laser under a flexible ureteroscope, and the kidney cysts were opened by holmium laser endotomy. Window decompression was performed, indwelling the ureteral double-J tube for 1 month after the operation. After 1 month, when the patient was hospitalized and the double-J tube was removed, a flexible ureteroscope was inserted into the renal pelvis to confirm the effect of window opening and lithotripsy, and CT or B-ultrasound was reviewed. Results: Among the 7 patients with endogenous renal cysts and kidney stones, one patient was scheduled to undergo an internal incision after successful lithotripsy. The renal cyst wall tissue was surrounded by the renal artery, and the internal incision was terminated. One patient had an unsuccessful lithotripsy due to the poor angle of the kidney stone but was successfully treated for the renal cyst. The remaining 5 patients successfully underwent lithotripsy and internal incision surgery, of which 2 cases had difficulty finding kidney cysts and stones during the operation and needed assistance in locating kidney cysts and kidney stones under B-ultrasound monitoring. The average operation time was 42 minutes. When the catheter was extubated, the diameter of the renal cyst window was 0.5 cm to 2.5 cm under a flexible ureteroscope. The stone discharge was fair. There were residual gravels in the lower calyx of the kidney in two patients, and the stone basket was removed. After extubation, the maximum diameter of the renal cyst was reduced by more than half by CT or B-ultrasound, the effect of fenestration and decompression was achieved, and there were no obvious residual stones. Conclusions: A holmium laser under a flexible ureteroscope has a reliable curative effect in the simultaneous treatment of endogenous renal cysts with kidney stones, with little damage, quick recovery, and low cost. It can be used as the first choice for the treatment of endogenous renal cysts with kidney stones.

Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing

Background: Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the development of multiple cysts in the kidneys. It is often caused by pathogenic mutations in PKD1 and PKD2 genes that encode polycystin proteins. Although the molecular mechanisms for cystogenesis are not established, concurrent inactivating germline and somatic mutations in PKD1 and PKD2 have been previously observed in renal tubular epithelium (RTE). Methods: To further investigate the cellular recessive mechanism of cystogenesis in RTE, we conducted whole-genome DNA sequencing analysis to identify germline variants and somatic alterations in RTE of 90 unique kidney cysts obtained during nephrectomy from 24 unrelated participants. Results: Kidney cysts were overall genomically stable, with low burdens of somatic short mutations or large-scale structural alterations. Pathogenic somatic "second hit" alterations disrupting PKD1 or PKD2 were identified in 93% of the cysts. Of these, 77% of cysts acquired short mutations in PKD1 or PKD2; specifically, 60% resulted in protein truncations (nonsense, frameshift, or splice site) and 16.7% caused non-truncating mutations (missense, in-frame insertions, or deletions). Another ~18% of cysts acquired somatic chromosomal loss of heterozygosity (LOH) events encompassing PKD1 or PKD2 ranging from 2.6 to 81.3 Mb. 14.4% of these cysts harbored copy number neutral LOH events, while the other 3.3% had hemizygous chromosomal deletions. LOH events frequently occurred at chromosomal fragile sites, or in regions comprising chromosome microdeletion diseases/syndromes. Almost all somatic "second hit" alterations occurred at the same germline mutated PKD1/2 gene. Conclusions: These findings further support a cellular recessive mechanism for cystogenesis in ADPKD primarily caused by inactivating germline and somatic variants of PKD1 or PKD2 genes in kidney cyst epithelium.

Transcutaneous puncture of kidney cysts under ultrasound control

The article presents the results of the introduction of puncture drainage and sclerosis of kidney cysts under ultrasound guidance in the clinic. This technique refers to minimally invasive surgery, it is the least traumatic, does not lead to large material costs, is very reliable and effective. It is easy to perform in a hospital setting of any level. According to this method, 38 patients were treated in the hospital for five years.

Control of the size of simple kidney cysts by a combination of dietician supplement

The effectiveness of the dietary supplement Aneza is presented with a practical approach. Aneza is positioned to control the size of simple kidney cysts. The author considers the properties of dietary supplements, which became the basis for a 6-month initiative study EFFECTIVENESS OF ANESA IN SIMPLE KIDNEY CYSTS (ETAP). The POEM study design was based on evidence-based practice and was conducted as an open prospective rando­mized in one group free of charge in 60 people aged 30 to 65 years with a diagnosed cyst I–II according to Bosniak. Exclusion criteria were as follows: invasive urological history, renal failure (chronic kidney disease stage 3 and above). The average decrease in the vo­lume of the cyst on the background of receiving Aneza in the right kidney was minus 46.5 %, in the left — minus 39.9 %, on average minus 42.9 % (P ≤ 0.01). The best dynamics of cyst volume reduction was observed in women older than 40 years — 66.8 % vs. 52.5 % up to 40 years: (t = 0.97), and in men up to 40 years old: 27.1 % vs. 30.5 % (t = 0.29). The study confirms the effectiveness of Aneza in people with simple kidney cysts and, in the author’s opi­nion, a dietary supplement can be recommended as an additional means of controlling the growth of kidney cysts I–II according to Bosniak.

Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases

Kidney cysts are the most common kidney lesion, while congenital kidney cysts are mostly found in pediatric population. Neonatal kidney cysts can develop due to fetal malformations, rare genetic disorders or can be acquired which is very rare. Kidney cysts may be the only isolated finding or be part of the overall phenotype. They can be asymptomatic, found by ultrasound accidentally or can manifest from mild to life-threatening symptoms. Therefore, early diagnosis is very important. Autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease are the most common causes of kidney cysts in the neonatal population. This review highlights the most common kidney cystic diseases during the neonatal period and a rare clinical case of HNF1B-associated disease.

Prenatal renal oligohydramnion and renal function in newborns and infants with cystic kidney diseases

THE AIM:to describe the causes, pathogenesis, clinical course and outcome of Potter sequence in children with cystic kidney disease. PATIENTS AND METHODS:the follow-up study of 23 newborns with cystic kidney disease was studied, in which renal oligohydramnios (ROH) was confirmed prenatally by ultrasound (US). RESULTS:Of the 155 children with autosomal dominant polycystic kidney disease (ADPKD), 8 (5,2 %) prenatal after 30 weeks of gestation established ROH, at 26-32 weeks of gestation – cyst in the kidney by US, in 2 of them ROH confirmed simultaneously with the detection of cysts in kidneys of a fetus, 6 – late detection of kidney cysts. Of the 8 newborns with a very early onset ADPKD, prenatal developed in ROH conditions, in 2 (25 %) in the neonatal period diagnosed the Potter phenotype. Of the 20 children with autosomal recessive polycystic kidney disease (ARPKD), 12 (60 %) prenatally revealed ROH after 18 weeks of gestation prenatally, of these, 8 (67 %) in the neonatal period diagnosed the Potter phenotype. Of the 12 newborns with ARPKD, that developed in ROH conditions, in 5 (42 %) kidney cysts were detected prenatally by US at 32-37 weeks of gestation, in 7 (58 %) in the neonatal period. ROH and the Potter phenotype are more common with ARPKD in the fetus than with ADPKD. Among children with ARPKD and ADPKD undergoing ROH, no statistically significant differences in the frequency of deaths in the neonatal and infancy. The characteristics of course and outcome of the Potter sequence in the neonatal and infant periods in a boy with deletion of 12p and cystic kidney disease are described. ROH in 2 children with cystic kidneys and coloboma of the optic nerve disc did not lead to the formation of the Potter phenotype. In 15 children with multicystic kidney prenatal US showed no ROH. CONCLUSION: the results of a follow-up study of children after ROH and the course of the Potter sequence for different cystic kidney disease in children are presented.