Renal Abnormalities: Causes & Reasons

Possible Causes for Renal Abnormalities

Bardet-Biedl Syndrome Type 5

abnormalities. [rarediseases.info.nih.gov]

Though renal abnormalities can occur in this syndrome, renal failure is a rare presentation. [ijabmr.org]

abnormalities). [jmg.bmj.com]

Bardet-Biedl Syndrome Type 7

abnormalities. [rarediseases.info.nih.gov]

There are 6 primary features of BBS, i.e. rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties. [karger.com]

It should be considered in women with BBS and risk factors for hyperoestrogenism (obesity, hyperinsulinemia, ovulatory dysfunction).59–61 Renal Anomalies Renal abnormalities [dovepress.com]

Renal Cysts and Diabetes Syndrome

Impaired glucose tolerance Genitourinary Abnormal nephrogenesis Abnormal renal calyces Abnormal renal pelves Asthenospermia Atresia of the vas deferens Bicornuate uterus [datagenno.com]

In a pooled analysis, antenatal renal abnormalities, renal hyperechogenicity and cysts were discriminatory in children, whereas renal hypoplasia and cysts were discriminatory [karger.com]

renal pelvices, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricaemic nephropathy. [medical-dictionary.thefreedictionary.com]

Bilateral Renal Dysplasia

No karyotype abnormalities were found in fetuses with unilateral MCDK if an associated non-renal abnormality was not found. [fetalsono.com]

Key Points Multicystic dysplastic kidney (MCDK) is a severe renal abnormality associated with atretic ureter and absence of normal renal parenchyma, which is replaced by multiple [mhmedical.com]

Renal abnormality is investigated by urinalysis, renal function tests, and imaging studies such as renal ultrasonography and CT. [rarediseases.org]

Bardet-Biedl Syndrome Type 11

abnormalities. [rarediseases.info.nih.gov]

Abnormal renal development was confirmed in almost 50% of the patients ( Table 2 ). [cjasn.asnjournals.org]

The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities [scielo.br]

Bilateral Multicystic Dysplastic Kidney

No karyotype abnormalities were found in fetuses with unilateral MCDK if an associated non-renal abnormality was not found. [fetalsono.com]

It is an abnormality of the embryonic development in which the renal parenchyma is substituted by nonfunctioning renal tissue made up of cysts which do not communicate with [sjkdt.org]

Fraser Syndrome

The abdominal ultrasound showed renal abnormalities. [academia.edu]

Fetopathological examination revealed that the oligoamnios sequence was due to major renal abnormalities (bilateral renal agenesis in the first, and unilateral renal agenesis [ncbi.nlm.nih.gov]

abnormalities, and genital malformations. [genome.jp]

Unilateral Renal Agenesis

We determined the incidence of associated renal abnormalities in children with unilateral renal agenesis. [ncbi.nlm.nih.gov]

RESULTS: The prevalence of auditory abnormalities in children with unilateral renal agenesis (4/75) (5.3%) was higher than in the control group (0%). [ncbi.nlm.nih.gov]

Although mice lacking functional ret may have renal agenesis or dysgenesis, no clinically relevant renal abnormalities have been reported in patients with familial medullary [nejm.org]

Laurence Moon Syndrome

Other abnormalities included small testes and genitalia, menstrual irregularities, low serum estrogen levels, diabetes mellitus, and renal abnormalities. [1] COMMENT. [pediatricneurologybriefs.com]

Key words Bardet-Biedl syndrome Laurence-Moon-Biedl syndrome Renal abnormalities Renal imaging This is a preview of subscription content, log in to check access. [link.springer.com]

Congenital renal abnormalities in the Laurence-Moon-Biedl Syndrome.Arch Dis Child. 1977; 52: 968 Scopus (15) Crossref Google Scholar Article Info Identification DOI: https [goldjournal.net]

Renal Coloboma Syndrome

Renal-coloboma syndrome is a recently described autosomal dominant syndrome of abnormal optic nerve and renal development. [ncbi.nlm.nih.gov]

BACKGROUND: Renal-coloboma syndrome (RCS) is an autosomal dominant disorder characterized by renal abnormalities and optic nerve defects, caused by heterozygous mutations [ncbi.nlm.nih.gov]

[…] anomalies renal-coloboma syndrome with macular abnormalities CAKUT with or without ocular abnormalities papillorenal syndrome papillo-renal syndrome, optic nerve coloboma [wikidata.org]

Vesicoureteral Reflux

[…] with renal function abnormalities had moderate to severe abnormalities. [pediatrics.aappublications.org]

[…] of existing renal cortical abnormalities that may affect decision-making. [auanet.org]

DMSA renal imaging can better provide information regarding the degree of existing renal cortical abnormalities. [doi.org]

Renal Malrotation

Abnormal renal rotation. [radiopaedia.org]

Renal abnormalities and their developmental origin. Nat Rev Genet. 2007 Oct;8(10):791-802. PMID: 17878895 Rodriguez MM. [humpath.com]

[…] anal, cardiac, tracheal, esophageal, renal, limb) syndrome. [4, 5, 6] Anomalies of the kidneys can occur in VATER association; the most common of these renal abnormalities [emedicine.medscape.com]

Sickle Cell Nephropathy

(41) Hematuria7(8.5) Hemoglobinuria12 (14,5) BUN=Blood urea nitrogen, S=Serum 10 Renal abnormalities in SCD Various forms of renal abnormalities have been observed in SCD [slideplayer.com]

Renal abnormalities are common complications of sickle cell disease (SCD). [ncbi.nlm.nih.gov]

In some cases, it may result from papillary necrosis 15 Summary renal abnormalities, particularly proteinuria, are common in adolescent and adult patients with SCD. [slideplayer.com]

Renal Agenesis

Renal Dysgenesis: Abnormal kidney development, which includes aplasia, hypoplasia, dysplasia, and cystic disease. [sjkdt.org]

Bilateral renal agenesis is a rare abnormality of renal development occuring in one to three per 10,000 births. [fetalsono.com]

Abdominal ultrasound of neonate helps confirm renal abnormalities noted prenatally. Chest X-ray of neonate reveals spontaneous pneumothorax and pulmonary hypoplasia. [quizlet.com]

Acrorenal Mandibular Syndrome

The features are compared with other cases with limb and renal abnormalities reported in the literature. [insights.ovid.com]

Abstract Author Information Authors Article Metrics Metrics A fetus with ectrodactyly, Pierre Robin sequence, renal aplasia and other anomalies is reported. [journals.lww.com]

This case along with similar two cases reported by Halal and Tobias delineates acro-renal-mandibular syndrome as a distinct entity. [insights.ovid.com]

Oculocerebrorenal Syndrome

Abstract Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. [pubmed.ncbi.nlm.nih.gov]

Diagnostic methods Diagnosis of OCRL is based on specific ophthalmologic, neurologic and renal abnormalities. [orpha.net]

In the eye, this leads to disorganization of embryonic lens epithelium and abnormal development of the trabecular meshwork that regulates aqueous humor outflow from the eye [orpha.net]

Congenital Bilateral Megacalycosis

No renal abnormality was detected in the parents. Our observation supports the genetic nature of the disease. [link.springer.com]

A variety of renal abnormalities occur with mutations of these genes. [accesspediatrics.mhmedical.com]

[…] and cardiac abnormalities. [scinapse.io]

Double Ureter

It is the most common renal abnormality, occurring in approximately 1% of the population. [1] [2] The additional ureter may result in a ureterocele, or an ectopic ureter. [en.wikipedia.org]

It is the most common renal abnormality, occurring in approximately 1% of the population. 1, 2 Duplicated ureter is more common in women. [casereports.bmj.com]

It is the most common renal abnormality, occurring in approximately 1% of… … Wikipedia lower pole ureter — the ureter draining the lower pole of a duplex kidney … Medical [medicinins_lt.enacademic.com]

Congenital Renal Failure

Intravenous pyelogram : detects anatomic abnormalities; has largely been replaced by ultrasound and CT urography CT scan : detects anatomic abnormalities; can complement renal [amboss.com]

Flashcards in 12.1 Congenital Renal Diseases Deck (13): What is the most common renal congenital abnormality? [brainscape.com]

Renal abnormalities and their developmental origin Nat Rev Genet 2007;8(10): 791-802. 11. [sjkdt.org]

Bilateral Renal Agenesis

We recently described autopsy findings of two human fetuses with bilateral renal agenesis and abnormal expression of WT1 (Wilms tumor 1) in liver mesothelium. [ncbi.nlm.nih.gov]

Renal Dysgenesis: Abnormal kidney development, which includes aplasia, hypoplasia, dysplasia, and cystic disease. [sjkdt.org]

[…] agenesis in fetus) Maternal body mass index greater than 30 (BRA) Smoking (BRA) Binge drinking (BRA) Link to chromosomal abnormalities (trisomy 21, 22, 45-x mosaic) Renal [quizlet.com]

Alagille Syndrome

[…] frequent renal abnormalities. [ncbi.nlm.nih.gov]

Various renal abnormalities have also been associated with Alagille syndrome, whereas renal vascular hypertension combined with renal insufficiency has been reported in several [ncbi.nlm.nih.gov]

She had characteristic facies, posterior embryotoxon, "butterfly" vertebrae but had no cardiac or renal abnormalities. [ncbi.nlm.nih.gov]

Renal Tubular Dysfunction

However, a variety of renal tubular abnormalities including hypercalciuria, hypo-magnesemia with renal magnesium wasting, decreased tubular absorption of phosphorus, hypo-uricemia [ncbi.nlm.nih.gov]

The abnormalities of blood chemistry and renal tubular function disappeared after four weeks of abstinence. [ncbi.nlm.nih.gov]

The aim of this study is to investigate the occurrence of renal tubular abnormalities among patients with SCD. [karger.com]

Monosomy 1p36 Syndrome

[…] or conductive/glue ear), skeletal anomalies, abnormalities of the external genitalia and, less frequently, renal abnormalities and hypothyroidism. [orpha.net]

and renal abnormalities. [genome.jp]

a neurodevelopmental assessment, and standard examinations for eye/vision problems, hearing loss, and skeletal and renal abnormalities are recommended. [orpha.net]

Hypoplastic Kidney

Renal abnormalities, including renal hypoplasia, hydronephrosis and duplication of the calyceal system, have been reported less frequently. new" lethal multiple congenital [medical-dictionary.thefreedictionary.com]

Renal and renovascular abnormalities constitute features of the Williams-Beuren syndrome (WBS), one multisystem genetic disorder in childhood, caused by a microdeletion of [ncbi.nlm.nih.gov]

In renal dysplasia (a histologic diagnosis), the renal vasculature, tubules, collecting ducts, or drainage apparatus develops abnormally. [merckmanuals.com]

Proximal Renal Tubular Acidosis

Severe metabolic acidosis and hypokalaemia were linked to an abnormally low renal threshold for bicarbonate reabsorption (8 mmol/l). [ncbi.nlm.nih.gov]

Abstract Mutations in the Na+-HCO3- co-transporter (NBC1) cause permanent proximal renal tubular acidosis (pRTA) with ocular abnormalities. [ncbi.nlm.nih.gov]

Abstract Proximal renal tubular acidosis associated with ocular abnormalities such as band keratopathy, glaucoma, and cataracts is caused by mutations in the Na(+)-HCO(3) [ncbi.nlm.nih.gov]

Horseshoe Kidney

Primary renal neuroendocrine tumors (NETs) are low-grade tumors with neuroendocrine differentiation and have been reported to arise most commonly in renal abnormalities such [ncbi.nlm.nih.gov]

Horseshoe kidney is a fairly common renal abnormality that results in two normal, functioning kidneys that are connected at the lower poles by a fibrous tissue. [fhmedicalgroup.com]

Horseshoe kidney is a congenital renal fusion abnormality that can be complicated by stones; in rare cases, it has also been associated with a duplex collecting system. [ncbi.nlm.nih.gov]

Renal Osteodystrophy

Renal osteodystrophy denotes skeletal abnormality in patients with renal disease. [ncbi.nlm.nih.gov]

Abstract Renal osteodystrophy is characterized by abnormalities in bone turnover, mineralization, and bone volume. [ncbi.nlm.nih.gov]

This type of resorption beneath unmineralized bone matrix is often observed in osteomalacia, particularly that caused by renal abnormalities and associated secondary hyperparathyroidism [fluoridealert.org]

Simpson Dysmorphia Syndrome

From Wikidata Jump to navigation Jump to search X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities [wikidata.org]

abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 on chromosome Xq26. [informatics.jax.org]

abnormalities DGSX Golabi-Rosen syndrome Golabi-Rosen syndrome SGB syndrome Sara Angers syndrome Simpson dysmorphia syndrome X-linked dysplasia gigantism syndrome bulldog [wikidata.org]

Nail-Patella Syndrome

This is the first report of the NPS in which the renal abnormalities have been studied in a fetus. [ncbi.nlm.nih.gov]

Our patients had a severe form of skeletal involvement without renal abnormalities. [hindawi.com]

It is due to mutations in the LMX1B gene located on chromosome 9q34, and characterized by muscular, skeletal, cutaneous and renal abnormalities. [medigraphic.com]

Familial Renal Glucosuria

However, in those with renal glycosuria, glucose is abnormally elevated in the urine due to improper functioning of the renal tubules, which are primary components of nephrons [en.wikipedia.org]

Renal glycosuria is considered an inherited defect of membrane transport (i.e., an abnormal renal transport syndrome). [rarediseases.org]

Renal glucosuria may occur without any other abnormalities of renal function or as part of a generalized defect in proximal tubule function (Fanconi syndrome). [merckmanuals.com]