Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation

Zhou, Xihui; Hui, Zhi-Yan; Li, Yuan

doi:10.1007/s12519-013-0407-3

Cited by 6 publications

(3 citation statements)

References 10 publications

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“…The most common indication for ramipril was hypertension, particularly caused by renal impairment. In the majority of cases, the hypertension in boys was caused by polycystic kidney disease (PKD), an autosomal recessive disease, a significant cause of renal and liver-related morbidity in children and adolescents [10]. However, no relationship between sex and PKD has been described [11].…”

Section: Discussionmentioning

confidence: 99%

Incidence of unlicensed and off-label prescription in children

2014

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BackgroundMany common drugs have not been licensed for use in children.MethodsThis study evaluated the incidence of unlicensed and off-label prescriptions at the Department of Pediatrics during a period of six months. A total of 8,559 prescriptions for 4,282 children were processed.ResultsOff-label and unlicensed prescriptions were found in 9.01% and 1.26% of all prescriptions, respectively. Unlicensed prescriptions were significantly more common in boys (1.5%) than in girls (1.0%) (p = 0.037). There was no significant difference between off-label prescriptions in boys (9.0%) and in girls (9.1%) (p = 0.89). The prescription of unlicensed drugs was significantly more frequent in school age children (p < 0.0001). The most commonly prescribed unlicensed drugs were angiotensin-converting enzyme inhibitors; among off-label drugs, antihistamines and bronchodilators.ConclusionsThis study shows that the incidence of unlicensed and off-label drug prescriptions in our patients is not as high as in other studies.

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Section: Discussionmentioning

confidence: 99%

Incidence of unlicensed and off-label prescription in children

2014

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“…As enough nephrons are affected as time pass, renal insufficiency would be caused leading eventually to renal failure (Masoumi et al, 2008). ARPKD can be detected via prenatal ultrasound which shows large kidney with cysts and oligohydramnios (Zhou et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

Polycystic kidney disease - A case report

Aldali¹,

Aldali²,

Aldali³

et al. 2022

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This report presents a case report of a 29 year old Saudi Arabian patient who has been recently diagnosed with inherited polycystic kidney disease. The patient suffered from hypertensive symptoms and severe abdominal pain.Haematology, chemistry and microbiology examination was performed on the patient, alongside an ultrasound examination. The patient appeared to have hypertension, high uric acid and high lipid profile. The ultrasound results showed enlarged fatty liver, two cysts in the left liver (1.28cm and 1.32cm in width) and one cyst in the right liver (0.85cm in width). Currently, the patient's renal function is normal, but suffers from severe abdominal and kidney pain regularly, alongside hypertensive symptoms. The current treatments provided are Olmetec for controlling hypertension and intravenous analgesic such as xefo, morphine and paracetamol. There is currently no treatment for polycystic kidney disease. Therefore, patient is continuously monitored on a monthly basis.

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“…Previous studies established that mutations in the Nek8 genes caused pathogenesis and development of NPHP in human and other animal species [26,27,28]. This resulted to the consideration of NPHP as a less common form of ARPKD [29,30].…”

Section: Introductionmentioning

confidence: 99%

Modifier loci in non-mutant, female Wistar Kyoto rats influence cellular pathogenesis of nephronophthisis in Lewis polycystic kidney rats

Yengkopiong¹,

Lako²

2015

pjp

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Genetic modifier loci influence the inheritance of diseases and lead to variability in phenotype progression. We report the influence of modifier loci in female Wistar Kyoto (WKY) rats on cellular pathogenesis of nephronophthisis inherited from Lewis polycystic kidney (LPK) rats. The loci modified cellular expression and progression of nephronophthisis in the backcross 1 (BC1) progeny. Mating experiments to produce BC1 progeny were carried out between three male LPK and seven female WKY rats. Fifteen female rats from the F1 generation were mated with the male LPK rats to produce the BC1 progeny. The rats with cystic kidney disease were identified and histology of the kidneys was carried out. Mapping studies and linkage analysis were carried out to identify the modifier loci. The BC1 progeny were less affected than the LPK strain with respect to disease severity and progression of the kidneys to end stage renal disease. It was found that the mean values of all the disease phenotypes of the mutant BC1 progeny were significantly different from those of the LPK rats, and these segregated with the genotypes of the markers located on chromosomes 5q34-q36 and 7q11-q34, giving maximum LOD scores greater than 3 (p < 0.001).

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Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation

Abstract: The recurrence of PKHD1 mutation c.9319C>T (p.R3107X) in the ARPKD population might be a good evidence that it is disease associated. Given the limitations of antenatal ultrasound, PKHD1 mutation analysis is helpful for accurate genetic counseling and early prenatal diagnosis.

Cited by 6 publications

References 10 publications

Incidence of unlicensed and off-label prescription in children

Incidence of unlicensed and off-label prescription in children

Polycystic kidney disease - A case report

Modifier loci in non-mutant, female Wistar Kyoto rats influence cellular pathogenesis of nephronophthisis in Lewis polycystic kidney rats

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