scholarly journals Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes

2013 ◽  
Vol 29 (10) ◽  
pp. 1915-1925 ◽  
Author(s):  
Rainer Büscher ◽  
Anja K. Büscher ◽  
Stefanie Weber ◽  
Julia Mohr ◽  
Bianca Hegen ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Polycystic Kidney

Autosomal-recessive polycystic kidney disease in children

2016 ◽  
Vol 7 (4) ◽  
pp. 45-49 ◽  
Author(s):  
Elvira F Andreeva ◽  
Nadejda D Savenkova ◽  
Mohamed A Tilouche ◽  
Natalya Y Natochina ◽  
Igor V Dug
Keyword(s):  
Portal Hypertension ◽  
Kidney Disease ◽  
Arterial Hypertension ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Varicose Veins ◽  
Clinical Manifestations ◽  
Polycystic Kidney ◽  
Stage Renal Disease ◽  
Neonates And Infants

The aim of the study was to assess the features of development of renal and extrarenal cysts, arterial hypertension, syndrome of portal hypertension in autosomal recessive polycystic kidney disease (ARPKD) in children. Patients and me­thods. With the aim of establishing the type of inheritance of polycystic kidney disease the genealogical analysis of 12 families, clinical ultrasound of the kidneys and abdominal organs, computed tomography. The study included 14 children with ARPKD. Conducted follow-up study of 14 children with ARPKD to determine the age by the detection of cysts based on ultrasound, the features of the initial clinical manifestations and course, complications and outcome.Results: the Age of the children back to the time of detection of the cysts in the kidneys based on ultrasound when ARPKD was 2.3 ± 0.4 month. Identified a high incidence of arterial hypertension in neonates and infants with ARPKD at 92.9%. Extrarenal location of the cysts is set at 71.4%. Syndrome of portal hypertension, bleeding from varicose veins of esophagus and stomach, melanau installed in 5 (35,7%) children. Of the 14 in 5 (35,7%) patients diagnosed ARPKD children with liver fibrosis, which has a favorable prognosis without the formation of renal failure in infants and early childhood, 9 (64,3%) diagnosed with classic ARPKD in neonates and infants that is characterized by progression to end-stage renal disease in the first year of life.

scholarly journals Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes

2021 ◽  
Author(s):  
Shinya Ishiko ◽  
Naoya Morisada ◽  
Atsushi Kondo ◽  
Sadayuki Nagai ◽  
Yuya Aoto ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Clinical Features ◽  
Japanese Population ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Systemic Hypertension ◽  
Polycystic Kidney ◽  
Truncating Mutation ◽  
Minigene Assay

Abstract Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene. The clinical spectrum is often more variable than previously considered. We aimed to analyze the clinical features of genetically diagnosed ARPKD in the Japanese population. Methods We conducted a genetic analysis of patients with clinically diagnosed or suspected ARPKD in Japan. Moreover, we performed a minigene assay to elucidate the mechanisms that could affect phenotypes. Results PKHD1 pathogenic variants were identified in 32 patients (0–46 years). Approximately one-third of the patients showed prenatal anomalies, and five patients died within one year after birth. Other manifestations were detected as follows: chronic kidney disease stages 1–2 in 15/26 (57.7%), Caroli disease in 9/32 (28.1%), hepatic fibrosis in 7/32 (21.9%), systemic hypertension in 13/27 (48.1%), and congenital hypothyroidism in 3 patients. There have been reported that truncating mutations in both alleles led to severe phenotypes with perinatal demise. However, one patient without a missense mutation survived the neonatal period. In the minigene assay, c.2713C > T (p.Gln905Ter) and c.6808 + 1G > A expressed a transcript that skipped exon 25 (123 bp) and exon 41 (126 bp), resulting in an in-frame mutation, which might have contributed to the milder phenotype. Missense mutations in cases of neonatal demise did not show splicing abnormalities. Conclusion Clinical manifestations ranged from cases of neonatal demise to those diagnosed in adulthood. The minigene assay results indicate the importance of functional analysis, and call into question the fundamental belief that at least one non-truncating mutation is necessary for perinatal survival.

Can progression of autosomal dominant or autosomal recessive polycystic kidney disease be prevented?

2001 ◽  
Vol 21 (5) ◽  
pp. 430-440 ◽  
Author(s):  
Ira D. Davis ◽  
Katherine MacRae Dell ◽  
William E. Sweeney ◽  
Ellis D. Avner
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Polycystic Kidney

scholarly journals Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Xiuzhen Yao ◽  
Weiqun Ao ◽  
Jianhua Fang ◽  
Guoqun Mao ◽  
Chuanghua Chen ◽  
...  
Keyword(s):  
Pregnant Woman ◽  
Magnetic Resonance ◽  
Kidney Disease ◽  
Portal Vein ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Polycystic Kidney ◽  
Left Liver Lobe ◽  
Caroli Disease ◽  
T1 And T2

Abstract Background Both Caroli disease (CD) and autosomal recessive polycystic kidney disease (ARPKD) are autosomal recessive disorders, which are more commonly found in infants and children, for whom surviving to adulthood is rare. Early diagnosis and intervention can improve the survival rate to some extent. This study adopted the case of a 26-year-old pregnant woman to explore the clinical and imaging manifestations and progress of CD concomitant with ARPKD to enable a better understanding of the disease. Case presentation A 26-year-old pregnant woman was admitted to our hospital for more than 2 months following the discovery of pancytopenia and increased creatinine. Ultrasonography detected an enlarged left liver lobe, widened hepatic portal vein, splenomegaly, and dilated splenic vein. In addition, both kidneys were obviously enlarged and sonolucent areas of varying sizes were visible, but color Doppler flow imaging revealed no abnormal blood flow signals. The gestational age was approximately 25 weeks, which was consistent with the actual fetal age. Polyhydramnios was detected but no other abnormalities were identified. Magnetic resonance imaging revealed that the liver was plump, and polycystic liver disease was observed near the top of the diaphragm. The T1 and T2 weighted images were the low and high signals, respectively. The bile duct was slightly dilated; the portal vein was widened; and the spleen volume was enlarged. Moreover, the volume of both kidneys had increased to an abnormal shape, with multiple, long, roundish T1 and T2 abnormal signals being observed. Magnetic resonance cholangiopancreatography revealed that intrahepatic cystic lesions were connected with intrahepatic bile ducts. The patient underwent a genetic testing, the result showed she carried two heterozygous mutations in PKHD1. The patient was finally diagnosed with CD with concomitant ARPKD. The baby underwent a genetic test three months after birth, the result showed that the patient carried one heterozygous mutations in PKHD1, which indicated the baby was a PKHD1 carrier. Conclusions This case demonstrates that imaging examinations are of great significance for the diagnosis and evaluation of CD with concomitant ARPKD.

scholarly journals Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease

2021 ◽  
Vol 22 (12) ◽  
pp. 6523
Author(s):  
Adrian Cordido ◽  
Marta Vizoso-Gonzalez ◽  
Miguel A. Garcia-Gonzalez
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Molecular Basis ◽  
Autosomal Recessive ◽  
Polycystic Kidney ◽  
Phenotypic Spectrum ◽  
New Gene ◽  
Stage Renal Disease ◽  
End Stage ◽  
Molecular Pathophysiology

Autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder and one of the most severe forms of polycystic kidney disease, leading to end-stage renal disease (ESRD) in childhood. PKHD1 is the gene that is responsible for the vast majority of ARPKD. However, some cases have been related to a new gene that was recently identified (DZIP1L gene), as well as several ciliary genes that can mimic a ARPKD-like phenotypic spectrum. In addition, a number of molecular pathways involved in the ARPKD pathogenesis and progression were elucidated using cellular and animal models. However, the function of the ARPKD proteins and the molecular mechanism of the disease currently remain incompletely understood. Here, we review the clinics, treatment, genetics, and molecular basis of ARPKD, highlighting the most recent findings in the field.

scholarly journals Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease

2015 ◽  
Vol 16 (1) ◽  
Author(s):  
Jun Miyazaki ◽  
Mayuko Ito ◽  
Haruki Nishizawa ◽  
Takema Kato ◽  
Yukito Minami ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Polycystic Kidney ◽  
Intragenic Duplication
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