From WNEM-TV, CBS Affiliate, as reported from CNN
10-month-old Michigan girl born with rare kidney disease waits for transplant
A Michigan couple is counting their blessings this holiday season as they prepare for their daughter's first Christmas, and they're hopeful their little girl will soon receive a life-saving kidney transplant.
The moment a mother meets her child is unforgettable.
"It's just indescribable how much love and how much pain you feel when she feels pain,” said mother Emily Payne.
Payne waited six days to hold her baby girl for the first time.
"They really pushed for us to be able to hold her that day because they knew she was going to surgery and they didn't know if she would make it through that,” Payne said.
Born with autosomal recessive polycystic kidney disease (ARPKD), Rilynn Rose had both of her kidneys removed when she was just a week old.
"So many people told us she wouldn't survive and she's just really overcome everything. She's just really known as a miracle child,” Payne said.
Now 10 months old, this miracle baby is hooked up to a dialysis machine 12 hours a day.
"And then this one is her catheter for dialysis right here,” Payne said.
With each dialysis treatment, Rilynn runs the risk of an infection.
"You think you're safe and then all of the sudden you're not,” Payne said.
Rilynn is about two months and two pounds shy of being eligible for a kidney transplant.
"She's got a whole life ahead of her and she's already going through a lot more than I ever have,” said Zach Payne, Rilynn’s dad.
The emotional and financial toll is a struggle, though.
To become her daughter's full-time nurse, Emily quit her job at the Secretary of State's Office, where people decide whether to be an organ donor.
"I just wish I could go back and share her story and share that we could give her such a better life if you could donate,” Payne said.
One checked box could save Rilynn's life.
The Payne family has partnered with the Children’s Organ Transplant Association to help raise money for the life-saving transplant. >>Click here to donate<<
From Stanford Medicine, Scope Blog
Former co-workers reconnect via social media and become ‘kidney sisters’
Robbie Turner was only 28 years old when she was diagnosed with polycystic kidney disease — a genetic disorder that causes clumps of cysts to form in the kidneys, reducing their function over time. She knew she’d need a kidney transplant one day, and for many years, Turner and her husband thought he would be her kidney donor as he’d been approved as a perfect candidate.
Then Turner’s husband was diagnosed with cancer, and suddenly the couple was grappling with a cancer diagnosis and the need to identify a new kidney donor. Turner had kept her health condition private for years, but now that she needed to find a kidney donor fast, she broke her silence and turned to social media. A recent Stanford Health Care blog explains:
[A co-worker] created a Facebook page, ‘A Kidney for Robbie Turner,’ and uploaded videos of Turner telling her story. By casting her net beyond the people in her immediate social circle, Turner had 12 individuals come forward to be donors. One was a former co-worker, Nona Reid, who still lived in the Dallas area. She and Turner had lost touch for more than 15 years, but had recently reconnected via Facebook.
“I was the number one match, but the only one who lived out of state,” Reid said. She flew to California for testing and evaluation and was approved as a kidney donor for Turner.
On March 22, Turner and Reid were taken into surgery. Marc Melcher, MD, a Stanford Health Care transplant surgeon, performed both of their kidney surgeries. By the end of the day, Turner had a new, healthy kidney.
“I am extremely blessed to have Nona as a friend and I’m grateful and awed by her gift of life for me,” Turner said after the surgery. “She is my ‘kidney sister.’ I will take the best care of this kidney as if I was taking care of her.”
PKD Research
From ScienceDirect
Proteomic analysis of AQP11-null kidney: Proximal tubular type polycystic kidney disease
Abstract
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is caused by the mutation of polycystins (PC-1 or PC-2), in which cysts start from the collecting duct to extend to all nephron segments with eventual end stage renal failure. The cyst development is attenuated by a vasopressin V2 receptor antagonist tolvaptan which, however, will not affect proximal tubule cysts devoid of V2 receptor. Aquaporin-11 (AQP11) is expressed selectively in the proximal tubule of the kidney and AQP11-null kidneys have a disruptive PC-1 trafficking to the plasma membrane to develop polycystic kidneys. Here, we analyzed AQP11-null kidneys at the beginning of cyst formation by quantitative proteomic analysis using Tandem Mass Tag (TMT). Among ~ 1200 identified proteins, 124 proteins were differently expressed by > 1.5 or < 0.8 fold change. A pancreatic stone inhibitor or a growth factor, lithostathine-1 (Reg1) was most enhanced by 5 folds which was confirmed by western blot, while mitochondria-related proteins were downregulated. The identified proteins will be new target molecules for the treatment of proximal tubular cysts and helpful to explore the functional roles of AQP11 in the kidney.
1. Introduction
Human Autosomal Dominant Polycystic Kidney Disease (ADPKD) is caused by the mutation of polycystin-1 (PC-1) or polycystin-2 (PC-2) [1–3]. Cysts originate from the collecting duct in PC-1 null mice with defective cAMP signaling [1], which are marginally attenuated by a V2 receptor antagonist, tolvaptan [4]. Since V2 receptor is absent in the proximal tubule, tolvaptan will not affect the growth of proximal tubular cysts. Moreover, the mechanism for cyst development in the proximal tubule may not be same as in the collecting duct. The therapy against proximal tubular cysts will improve the suboptimal efficiency of tolvaptan therapy for ADPKD [4].
Aquaporin-11 (AQP11) is a new member of aquaporin family which is expressed at the membrane of intracellular organelles such as the endoplasmic reticulum (ER) [5–8]. Currently, the function of AQP11 is not clear even as a water channel due to its unusual location in the cell. However, AQP11-null mice revealed a striking phenotype of intracellular vacuole formation in the proximal tubule at one week old [5,9] indicating its critical role in the proximal tubule development. Surprisingly, these cells subsequently turn to cystic epithelia to develop polycystic kidney disease (PKD) at three week old and death at one month old [5]. The mechanism for the development of PKD in AQP11-null mice may not be related to its water channel function.
Our recent study on AQP11-null mice revealed a trafficking defect of PC-1 to the plasma membrane due to its abnormal glycosylation at the ER [10] possibly induced by abnormal environment of the ER with defective water and/or solutes transports. Irrespective of its mechanism, AQP11-null mice will be a good model for ADPKD affecting the proximal tubule selectively with intact collecting ducts, which will be useful to examine the proximal tubular cyst formation in ADPKD. As is the case with conditional knock-out mice of PC-1 [11], the effect of AQP11 deletion is also developmentally dependent as cysts were not observed with the disruption of AQP11 at ten days after birth [9]. Furthermore, these cysts may represent a very early stage of the cyst formation as they are in fact not cysts but dilated proximal tubules [9].
To expand our previous microarray studies [12], we employed a proteomic approach in this study to compare the differentially expressed proteins in AQP11-null kidney to identify key molecules for the development of proximal tubule specific cysts and functional role of AQP11 in the kidney. [Read more]
The moment a mother meets her child is unforgettable.
"It's just indescribable how much love and how much pain you feel when she feels pain,” said mother Emily Payne.
Payne waited six days to hold her baby girl for the first time.
"They really pushed for us to be able to hold her that day because they knew she was going to surgery and they didn't know if she would make it through that,” Payne said.
Born with autosomal recessive polycystic kidney disease (ARPKD), Rilynn Rose had both of her kidneys removed when she was just a week old.
"So many people told us she wouldn't survive and she's just really overcome everything. She's just really known as a miracle child,” Payne said.
Now 10 months old, this miracle baby is hooked up to a dialysis machine 12 hours a day.
"And then this one is her catheter for dialysis right here,” Payne said.
With each dialysis treatment, Rilynn runs the risk of an infection.
"You think you're safe and then all of the sudden you're not,” Payne said.
Rilynn is about two months and two pounds shy of being eligible for a kidney transplant.
"She's got a whole life ahead of her and she's already going through a lot more than I ever have,” said Zach Payne, Rilynn’s dad.
The emotional and financial toll is a struggle, though.
To become her daughter's full-time nurse, Emily quit her job at the Secretary of State's Office, where people decide whether to be an organ donor.
"I just wish I could go back and share her story and share that we could give her such a better life if you could donate,” Payne said.
One checked box could save Rilynn's life.
The Payne family has partnered with the Children’s Organ Transplant Association to help raise money for the life-saving transplant. >>Click here to donate<<
From Stanford Medicine, Scope Blog
Former co-workers reconnect via social media and become ‘kidney sisters’
Robbie Turner was only 28 years old when she was diagnosed with polycystic kidney disease — a genetic disorder that causes clumps of cysts to form in the kidneys, reducing their function over time. She knew she’d need a kidney transplant one day, and for many years, Turner and her husband thought he would be her kidney donor as he’d been approved as a perfect candidate.
Then Turner’s husband was diagnosed with cancer, and suddenly the couple was grappling with a cancer diagnosis and the need to identify a new kidney donor. Turner had kept her health condition private for years, but now that she needed to find a kidney donor fast, she broke her silence and turned to social media. A recent Stanford Health Care blog explains:
[A co-worker] created a Facebook page, ‘A Kidney for Robbie Turner,’ and uploaded videos of Turner telling her story. By casting her net beyond the people in her immediate social circle, Turner had 12 individuals come forward to be donors. One was a former co-worker, Nona Reid, who still lived in the Dallas area. She and Turner had lost touch for more than 15 years, but had recently reconnected via Facebook.
“I was the number one match, but the only one who lived out of state,” Reid said. She flew to California for testing and evaluation and was approved as a kidney donor for Turner.
On March 22, Turner and Reid were taken into surgery. Marc Melcher, MD, a Stanford Health Care transplant surgeon, performed both of their kidney surgeries. By the end of the day, Turner had a new, healthy kidney.
“I am extremely blessed to have Nona as a friend and I’m grateful and awed by her gift of life for me,” Turner said after the surgery. “She is my ‘kidney sister.’ I will take the best care of this kidney as if I was taking care of her.”
PKD Research
From ScienceDirect
Proteomic analysis of AQP11-null kidney: Proximal tubular type polycystic kidney disease
Abstract
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is caused by the mutation of polycystins (PC-1 or PC-2), in which cysts start from the collecting duct to extend to all nephron segments with eventual end stage renal failure. The cyst development is attenuated by a vasopressin V2 receptor antagonist tolvaptan which, however, will not affect proximal tubule cysts devoid of V2 receptor. Aquaporin-11 (AQP11) is expressed selectively in the proximal tubule of the kidney and AQP11-null kidneys have a disruptive PC-1 trafficking to the plasma membrane to develop polycystic kidneys. Here, we analyzed AQP11-null kidneys at the beginning of cyst formation by quantitative proteomic analysis using Tandem Mass Tag (TMT). Among ~ 1200 identified proteins, 124 proteins were differently expressed by > 1.5 or < 0.8 fold change. A pancreatic stone inhibitor or a growth factor, lithostathine-1 (Reg1) was most enhanced by 5 folds which was confirmed by western blot, while mitochondria-related proteins were downregulated. The identified proteins will be new target molecules for the treatment of proximal tubular cysts and helpful to explore the functional roles of AQP11 in the kidney.
1. Introduction
Human Autosomal Dominant Polycystic Kidney Disease (ADPKD) is caused by the mutation of polycystin-1 (PC-1) or polycystin-2 (PC-2) [1–3]. Cysts originate from the collecting duct in PC-1 null mice with defective cAMP signaling [1], which are marginally attenuated by a V2 receptor antagonist, tolvaptan [4]. Since V2 receptor is absent in the proximal tubule, tolvaptan will not affect the growth of proximal tubular cysts. Moreover, the mechanism for cyst development in the proximal tubule may not be same as in the collecting duct. The therapy against proximal tubular cysts will improve the suboptimal efficiency of tolvaptan therapy for ADPKD [4].
Aquaporin-11 (AQP11) is a new member of aquaporin family which is expressed at the membrane of intracellular organelles such as the endoplasmic reticulum (ER) [5–8]. Currently, the function of AQP11 is not clear even as a water channel due to its unusual location in the cell. However, AQP11-null mice revealed a striking phenotype of intracellular vacuole formation in the proximal tubule at one week old [5,9] indicating its critical role in the proximal tubule development. Surprisingly, these cells subsequently turn to cystic epithelia to develop polycystic kidney disease (PKD) at three week old and death at one month old [5]. The mechanism for the development of PKD in AQP11-null mice may not be related to its water channel function.
Our recent study on AQP11-null mice revealed a trafficking defect of PC-1 to the plasma membrane due to its abnormal glycosylation at the ER [10] possibly induced by abnormal environment of the ER with defective water and/or solutes transports. Irrespective of its mechanism, AQP11-null mice will be a good model for ADPKD affecting the proximal tubule selectively with intact collecting ducts, which will be useful to examine the proximal tubular cyst formation in ADPKD. As is the case with conditional knock-out mice of PC-1 [11], the effect of AQP11 deletion is also developmentally dependent as cysts were not observed with the disruption of AQP11 at ten days after birth [9]. Furthermore, these cysts may represent a very early stage of the cyst formation as they are in fact not cysts but dilated proximal tubules [9].
To expand our previous microarray studies [12], we employed a proteomic approach in this study to compare the differentially expressed proteins in AQP11-null kidney to identify key molecules for the development of proximal tubule specific cysts and functional role of AQP11 in the kidney. [Read more]
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