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Autosomal recessive polycystic kidney disease

, 2019
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Case Report: A novel TTN gene variant and a concurrent rare COL4A4 gene variant in a Chinese patient with dilated cardiomyopathy. [PDF]

Front Cardiovasc Med
Han S, Zhang YY, Geng J.
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Transforming NICU care: rapid WES and transcriptomics-validation, social impact, and cost analysis. [PDF]

Eur J Pediatr
Martín López-Pardo B, Barbosa-Gouveia S, Vázquez-Mosquera ME, Reyes F, Falcão Reis C, Laranjeira F, Sánchez-Tamayo T, Sánchez-Pintos P, Fernández-Feijoo CD, Pérez-Muñuzuri A, Couce ML.   +10 more
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Kidney organoids demonstrate that PTH1R drives a cystogenic cAMP-pPKA-pCREB axis in developmental polycystic kidney disease. [PDF]

Am J Physiol Renal Physiol
Afrin H, Robichaud JH, Qamar U, Harris PC, Gupta N.   +4 more
europepmc   +1 more source

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Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management.

Advances in kidney disease and health, 2023
Autosomal recessive polycystic kidney disease (ARPKD) is the rare and usually early-onset form of polycystic kidney disease with a typical clinical presentation of enlarged cystic kidneys and liver involvement with congenital hepatic fibrosis or Caroli ...
K. Burgmaier, I. Broekaert, M. Liebau
semanticscholar   +1 more source

The Clinical and Mutational Spectrum of 69 Turkish Children with Autosomal Recessive or Autosomal Dominant Polycystic Kidney Disease: A Multicenter Retrospective Cohort Study

Nephron, 2023
Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is associated with pathogenic variants in the PKHD1 gene. Autosomal dominant polycystic kidney disease (ADPKD) is mainly associated with pathogenic variants in PKD1 or PKD2.
Ozum Tutal, B. Gulhan, E. Atayar, Selcuk Yuksel, Z. Ozcakar, O. Soylemezoglu, S. Saygılı, Salim Çalişkan, Mihriban Inozu, E. Baskın, A. Duzova, M. Hayran, R. Topaloğlu, F. Ozaltın   +13 more
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Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature

Nephron, 2023
The clinical features of cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis (COACH) characterize the rare autosomal recessive multisystem disorder called COACH syndrome.
Meenakshi Sambharia, M. Freese, F. Donato, G. Bathla, Ibrahim M.M. Abukhiran, Maisie I. Dantuma, M. Mansilla, C. P. Thomas   +7 more
semanticscholar   +1 more source

Ambulatory blood pressure and hypertension control in children with autosomal recessive polycystic kidney disease: clinical experience from two central European tertiary centres

Journal of Hypertension, 2022
Objective : Arterial hypertension is a common complication in patients with autosomal recessive polycystic kidney disease (ARPKD), occurring in 33–75% of children when measured by office blood pressure (OBP).
T. Seeman, R. Blažík, Fencl Fencl, K. Bláhová, L. Obeidová, J. Štekrová, F. Weigel, Ulrike John-Kroegel   +7 more
semanticscholar   +1 more source

Autosomal recessive polycystic kidney disease

Pediatric Nephrology, 1989
The clinical features of 55 cases of autosomal recessive polycystic kidney disease (ARPCKD) have been reviewed. Each had evidence of ARPCKD. The outcomes of 87% were known; 24 had died. Twenty-four of 31 were seen between 1980 and 1986; 7 could not be traced. Forty-five percent presented under 1 month; 38% between 1 month and 1 year; and 9 cases over 1
B S, Kaplan, J, Fay, V, Shah, M J, Dillon, T M, Barratt   +4 more
openaire   +2 more sources

Autosomal recessive polycystic kidney disease

Journal of Molecular Medicine, 1998
Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder which usually becomes clinically manifest in early childhood, although the spectrum of ARPKD is much more variable than generally known. Presentation of ARPKD at later ages and survival into adulthood have been observed in many cases. The responsible gene has been mapped
K, Zerres, S, Rudnik-Schöneborn, C, Steinkamm, J, Becker, G, Mücher   +4 more
openaire   +2 more sources