What About My Kids?

It’s May already. I don’t know if it’s lockdown that’s making the months seem to fly by or if it’s that I don’t look at the calendar very often. Either way, I know my first born’s birthday is May 6th. Happy birthday, my lovely Nima. By the way, Nima is Tibetan for the sun and my world did revolve around her just as our planet revolves around the sun. 

But when I was diagnosed with Chronic Kidney Disease way back in 2008, I became a bit nervous. Was this something I could conceivably [nice play on words, huh?] have passed on to her or her younger sister… and now that sister’s son? You’ve probably figured out that this mother worried about her children became the world’s best researcher overnight. Hmmm, that was 13 years ago. I wonder what the current research tells us about this. 

According to the University of Michigan’s Michigan Medicine, over 60 types of kidney disease can be inherited. These include: 

“Autosomal Dominant Polycystic Kidney Disease (ADPKD): The most common inherited kidney illness, ADPKD causes cysts to form on the kidneys. It occurs in about one in 800 people, and is passed down from parent to child through generations. Major health problems from ADPKD usually occur in adulthood, with more than 30,000 people in the U.S. each year suffering kidney failure as a result.  

Autosomal Recessive Polycystic Kidney Disease (ARPKD): This condition is also characterized by cysts, and affects about 1 in 20,000 people. ARPKD generally causes symptoms in early to late childhood. Learn more about dominant and recessive polycystic kidney disease on the PKD Foundation website. 

Thin Basement Membrane Disease 

Gitelman and Bartter Syndromes 

Collagen-related kidney diseases including Alport Syndrome: Learn more about Alport Syndrome on the Alport Syndrome Foundation website.  

Lowe Syndrome: Learn more about Lowe Syndrome on the Lowe Syndrome Association website. 

Hereditary Interstitial Kidney Disease: Gout associated inherited kidney diseases 

Tuberous Sclerosis 

Cystinosis: Learn more about Cystinosis on the Cystinosis Research Network website. 

Fabry Disease 

Nephronophthisis” 

While I’ve written about many of these, there are some that are new to me – and possibly to you – so I’ll write just a little bit about each of those. Also note that some of the websites are linked for you. 

Thank you, UNC School of Medicine‘s Kidney Center for the following: 

“TBM disease (also known as benign familial hematuria and thin basement membrane nephropathy) is, along with IgA nephropathy, the most common cause of blood in the urine without any other symptoms. The only abnormal finding in this disease is a thinning of the basement membrane of the glomeruli (filters) in the kidneys. Most patients with TBM disease maintain normal kidney function throughout their lives.” 

I haven’t written about Gitelman Syndrome. Luckily, there’s NORD to help us out here: 

“Fundamentally, like Bartter’s syndrome, Gitelman syndrome is a salt wasting nephropathy. The symptoms and severity of the disorder can vary greatly from one person to another and can range from mild to severe. For unknown reasons, the onset of symptoms is frequently delayed until the second decade of life. Symptoms and severity can even vary among members of the same family. Common symptoms can include episodes of fatigue, muscle weakness, and muscle cramps sometimes accompanied by gastrointestinal problems such as abdominal pain, nausea and vomiting. Some individuals may need to urinate frequently and will pass a large volume of urine (polyuria).” 

I turned to an old reliable favorite, MedlinePlus for information about Lowe Syndrome: 

“Kidney (renal) abnormalities, most commonly a condition known as renal Fanconi syndrome, often develop in individuals with Lowe syndrome. The kidneys play an essential role in maintaining the right amounts of minerals, salts, water, and other substances in the body. In individuals with renal Fanconi syndrome, the kidneys are unable to reabsorb important nutrients into the bloodstream. Instead, the nutrients are excreted in the urine. These kidney problems lead to increased urination, dehydration, and abnormally acidic blood (metabolic acidosis). A loss of salts and nutrients may also impair growth and result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. Progressive kidney problems in older children and adults with Lowe syndrome can lead to life-threatening renal failure and end-stage renal disease (ESRD).” 

Cystinosis sounded somewhat familiar, but then I thought perhaps it was because it starts with “cyst.” It turns out I was wrong, as the Cystinosis Foundation explains: 

“Cystinosis is the most common inherited cause of Fanconi syndrome, a renal tubular disease characterized by the inability of the kidneys to reabsorb electrolytes, amino acids, proteins and glucose from the urine. This leads to the loss of large volumes of urine, salts, minerals and nutrients. Laboratory testing may reveal severe electrolyte abnormalities, including low potassium (hypokalemia), low phosphorus (hypophosphatemia) and low bicarbonate (metabolic acidosis). Fanconi syndrome leads to growth failure, excessive thirst (polydipsia), excessive urination (polyuria), and soft bones (rickets). Treatment of Fanconi syndrome requires replacing lost electrolytes such as potassium, phosphorus and bicarbonate. 

Without treatment, children with cystinosis progress to end-stage kidney failure by an average age of 8-10 years. Even with treatment, many children develop kidney failure in adolescence. In the past, this meant death. Today patients can be treated with dialysis and kidney transplantation. Even with a transplant, however, the disease continues to affect every other organ in the body.” 

I think we have room for one more, so let’s look at Nephronophthisis. A site that is new to me, The Weizmann Institute of Science’s Malacards, explained succinctly: 

“It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia. Nephronophthisis eventually leads to end-stage renal disease (ESRD), a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Nephronophthisis can be classified by the approximate age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent).” 

I got so involved with these diseases, that I almost forgot about CKD. It turns out that it may run in families, just as hypertension and diabetes may. While hypertension runs in my family, diabetes runs in my children’s father’s family. That means, I’m sorry to say, that they are at considerable risk of CKD since hypertension and diabetes are the two main causes of CKD. Nuts! 

Until next week, 

Keep living your life!