PMID- 30368514
OWN - NLM
STAT- MEDLINE
DCOM- 20191002
LR  - 20201113
IS  - 2235-3186 (Electronic)
IS  - 1660-8151 (Linking)
VI  - 140
IP  - 4
DP  - 2018
TI  - Co-Inheritance of Autosomal Dominant Polycystic Kidney Disease and Naevoid Basal 
      Cell Carcinoma Syndrome: Effects on Renal Progression.
PG  - 282-288
LID - 10.1159/000490771 [doi]
AB  - The calcium signalling and hedgehog (HH) signalling pathways operate in the 
      primary cilium. Abnormalities in these pathways cause autosomal dominant 
      polycystic kidney disease (ADPKD) and naevoid basal cell carcinoma syndrome 
      (NBCCS) respectively. Several reports have proposed that hyperactivation of the 
      HH pathway in animal models of polycystic kidney disease affects normal renal 
      development and renal cyst phenotype. A family with 2 cases (a proband and her 
      sister) of ADPKD and NBCCS coinheritance led us to investigate whether 
      interactions may be present in the 2 pathways. The effect of HH pathway 
      hyperactivation (due to c.573C>G mutation on PTCH1 gene that cause NBCCS) on 
      renal ADPKD progression in the proband was compared to 18 age- and sex-matched 
      ADPKD patients in a 9-year, prospective, follow-up study. Blood pressure, total 
      kidney volume, estimated glomerular filtration rate, plasma copeptin, urine 
      excretion of albumin, total protein and monocyte chemoattractant protein-1 
      (MCP-1) were analysed. Data for the sibling was not available. In the ADPKD 
      group, blood pressure and estimated glomerular filtration rate were within normal 
      values, and total kidney volume and MCP-1 increased (p < 0.01) throughout the 
      study. In comparison, during the 9-year follow-up, the proband showed persistent 
      hypertension (from 125/85 to 140/95 mm Hg), low total kidney volume (75 and 61% 
      of median ADPKD), and a ninefold increase in urine MCP-1. We found no differences 
      in urine excretion of albumin or plasma copeptin values. These results suggest 
      that HH hyperactivation may play a minimal role in ADPKD progression. These 
      observations can help to clarify the clinical impact of affected pathways in 
      renal development and cystogenesis in humans.
CI  - (c) 2018 S. Karger AG, Basel.
FAU - Martinez, Maria Florencia
AU  - Martinez MF
AD  - Laboratorio de Nefrologia Experimental y Bioquimica Molecular, Instituto de 
      Investigaciones Medicas Alfredo Lanari, Universidad de Buenos Aires, Buenos 
      Aires, Argentina.
FAU - Mazzuoccolo, Luis Daniel
AU  - Mazzuoccolo LD
AD  - Departamento de Dermatologia, Hospital Eva Peron, Gral., San Martin, Argentina.
FAU - Oddo, Elisabet Monica
AU  - Oddo EM
AD  - Laboratorio de Nefrologia Experimental y Bioquimica Molecular, Instituto de 
      Investigaciones Medicas Alfredo Lanari, Universidad de Buenos Aires, Buenos 
      Aires, Argentina.
FAU - Iscoff, Paula Virginia
AU  - Iscoff PV
AD  - Servicio de Nefrologia, Hospital Presidente Peron, Avellaneda, Argentina.
FAU - Muchnik, Carolina
AU  - Muchnik C
AD  - Laboratorio de Nefrologia Experimental y Bioquimica Molecular, Instituto de 
      Investigaciones Medicas Alfredo Lanari, Universidad de Buenos Aires, Buenos 
      Aires, Argentina.
FAU - Neumann, Hartmut P H
AU  - Neumann HPH
AD  - Department of Nephrology, Section of Preventive Medicine, Albert Ludwigs 
      University, Freiburg, Germany.
FAU - Martin, Rodolfo Santiago
AU  - Martin RS
AD  - Laboratorio de Nefrologia Experimental y Bioquimica Molecular, Instituto de 
      Investigaciones Medicas Alfredo Lanari, Universidad de Buenos Aires, Buenos 
      Aires, Argentina.
AD  - Consejo Nacional de Investigaciones Cientificas y Tecnicas (CONICET), Buenos 
      Aires, Argentina.
FAU - Fraga, Adriana Raquel
AU  - Fraga AR
AD  - Laboratorio de Nefrologia Experimental y Bioquimica Molecular, Instituto de 
      Investigaciones Medicas Alfredo Lanari, Universidad de Buenos Aires, Buenos 
      Aires, Argentina.
AD  - Consejo Nacional de Investigaciones Cientificas y Tecnicas (CONICET), Buenos 
      Aires, Argentina.
FAU - Azurmendi, Pablo Javier
AU  - Azurmendi PJ
AD  - Laboratorio de Nefrologia Experimental y Bioquimica Molecular, Instituto de 
      Investigaciones Medicas Alfredo Lanari, Universidad de Buenos Aires, Buenos 
      Aires, Argentinaazurmendi.pablo@lanari.fmed.uba.ar.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20181026
PL  - Switzerland
TA  - Nephron
JT  - Nephron
JID - 0331777
RN  - 0 (Hedgehog Proteins)
RN  - 0 (PTCH1 protein, human)
RN  - 0 (Patched-1 Receptor)
SB  - IM
MH  - Adult
MH  - Basal Cell Nevus Syndrome/*complications/*genetics
MH  - Blood Pressure
MH  - Disease Progression
MH  - Female
MH  - Follow-Up Studies
MH  - Hedgehog Proteins/genetics
MH  - Humans
MH  - Kidney Function Tests
MH  - Patched-1 Receptor/genetics
MH  - Pedigree
MH  - Polycystic Kidney, Autosomal Dominant/*complications/*genetics
MH  - Prospective Studies
MH  - Renal Dialysis
MH  - Signal Transduction/genetics
OTO - NOTNLM
OT  - Autosomal dominant polycystic kidney disease
OT  - Co-inheritance
OT  - Hedgehog signalling
OT  - Naevoid basal cell carcinoma syndrome
OT  - PTCH1 gene mutation
EDAT- 2018/10/29 06:00
MHDA- 2019/10/08 06:00
CRDT- 2018/10/29 06:00
PHST- 2018/03/08 00:00 [received]
PHST- 2018/06/06 00:00 [accepted]
PHST- 2018/10/29 06:00 [pubmed]
PHST- 2019/10/08 06:00 [medline]
PHST- 2018/10/29 06:00 [entrez]
AID - 000490771 [pii]
AID - 10.1159/000490771 [doi]
PST - ppublish
SO  - Nephron. 2018;140(4):282-288. doi: 10.1159/000490771. Epub 2018 Oct 26.