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Renal disorders
Published in Rachel U Sidwell, Mike A Thomson, Concise Paediatrics, 2020
Rachel U Sidwell, Mike A Thomson
NB: Screen siblings and parents: Renal USS (autosomal dominant inheritance of many conditions)Diabetes (maternal diabetes associated with renal agenesis, and renal cysts and diabetes syndrome)
Kidneys and ureters
Published in Professor Sir Norman Williams, Professor P. Ronan O’Connell, Professor Andrew W. McCaskie, Bailey & Love's Short Practice of Surgery, 2018
Professor Sir Norman Williams, Professor P. Ronan O’Connell, Professor Andrew W. McCaskie
The differential diagnosis of ADPKD includes autosomal recessive PKD, tuberous sclerosis complex, von Hippel- Lindau disease, renal cysts and diabetes syndrome (RCAD), orofaciodigital syndrome type 1, medullary sponge kidney and simple renal cysts.
Prune belly syndrome
Published in Prem Puri, Newborn Surgery, 2017
Salvatore Cascio, Hideshi Miyakita, Prem Puri
The genetic basis of prune belly syndrome remains unknown. A single-gene abnormality or chromosomal defect has been suggested as the cause of this syndrome. There is an especially high incidence of prune belly syndrome associated with trisomy 21,14 trisomy 13,15,16 and trisomy 18.17,18 Twelve published case reports of familial prune belly syndrome primarily affecting brothers have suggested a possible autosomal or X-linked recessive mode of inheritance.19,20HNF1β is a transcription factor that regulates gene expression for normal mesodermal and endodermal development and has been proposed as a possible candidate gene for the syndrome. The most common HNF1β phenotype is renal cysts and diabetes syndrome, also called maturity-onset diabetes of the young type 5.21 However, a recent study has detected the V61G HNF1β mutation only in 1 of 34 (3%) patients with prune belly syndrome.20
Clinical utility of chromosomal microarray analysis and whole exome sequencing in foetuses with oligohydramnios
Published in Annals of Medicine, 2023
Xiaomei Shi, Hongke Ding, Chen Li, Ling Liu, LiHua Yu, Juan Zhu, Jing Wu
We also identified a homozygous point variation c.199-10T > G in the SLC25A20 gene in case 4. Mutation of SLC25A20 is causative for Carnitine-acylcarnitine translocase deficiency (CACTD). Case 5 presented with oligohydramnios, hyperechogenic kidneys and enlarged kidneys. WES revealed a compound heterozygous mutation in PKHD1, a gene associated with PKD4. Case 6 had bilateral renal dysplasia and hypoplastic nasal bone in addition to oligohydramnios. WES revealed a compound heterozygous mutation in FRAS1. Mutations in the FRAS1 gene may cause Fraser syndrome. Case 7 carried a heterozygous mutation of (c.1406_1413dup8) in the HNF1B gene. Mutations in this gene cause renal cysts and diabetes syndrome. Ultrasound of this foetus showed severe oligohydramnios, bilateral renal dysplasia and an enlarged heart.
Urinary proteomics for kidney dysfunction: insights and trends
Published in Expert Review of Proteomics, 2021
CKD273 is a multidimensional urinary proteome-based classifier consisting of 273 naturally occurring peptides found in the urine, which has the ability to assess and predict the progression of CKD [25]. Since its invention in 2010 [26] and the endorsement (‘Letter-of-Support’) by the U.S. Food and Drug Administration (FDA) in 2016, CKD273 has by far been the most promising application of urinary proteomics that might eventually enter clinical settings. The CKD273 classifier amplifies the intrinsic advantages of ‘-omics’ technology by using the combined power of 273 naturally occurring urinary peptides, contrary to most of the traditional diagnostic procedures that rely on only one or a few markers in the urine. The validity and usefulness of CKD273 has been examined most thoroughly in the PRIORTY (Proteomic prediction and Renin angiotensin aldosterone system Inhibition prevention of early diabetic nephRopathy in TYpe 2 diabetic patients with normoalbuminuria) clinical trial [27–29]. In the most recent sub-study of PRIORTY [8], investigators demonstrated that 19% of patients initially stratified by CKD273 to be at high risk of moderately increased albuminuria had a 30% decrease in eGFR from baseline over a 2½ year period whereas this dropped to 4% in those classified as ‘low-risk’ by CKD273. This indicates that CKD273 has the capacity to predict long-term progression to moderately increased albuminuria in patients with type 2 diabetes and normal buminuria regardless of clinical characteristics at examination. However, the treatment of type 2 diabetic patients designated by CKD273 as ‘high-risk’ with spironolactone was not able to prevent progression to moderately increased albuminuria [8,30,31]. This could be attributed to the use of moderately increased albuminuria for validation of CKD273 rather than gold-standard kidney biopsies, as demonstrated by the lower than expected proportion of high-risk patients defined by CKD273 and the subsequent lower study power [31]. Preliminary studies have also assessed the prognostic capability of CKD273 in patients treated with linagliptin [32], a dipeptidyl peptidase-4 inhibitor used in the treatment of type 2 diabetes, and empagliflozin [33], an inhibitor of the sodium/glucose cotransporter 2 (SGLT2) used in the treatment of diabetic kidney disease (DKD). Although the conclusions from these studies are inconclusive and further assessments is required, the continued application of CKD273 in various clinical cohorts will strengthen the reliability of the approach for routine diagnostics. Following the success of CKD273, similar attempts combining multiple markers into one classifier have been made for diagnosis of different types of CKD [34,35], IgA nephropathy [36], renal cysts and diabetes syndrome [37], pediatric urinary tract infections [38], as well as chronic antibody-mediated rejection in pediatric kidney transplantation [39] and chronic allograft nephropathy that occurs post-transplantation [40].