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The management of this condition can be done via-improvement of any electrolyte imbalance, as well as, hypertension and anemia treatment as the individuals condition warrants.
There is no FDA-approved treatment. However, it has been shown that mild to moderate dietary restrictions slow the progression of autosomal dominant polycystic kidney disease (ADPKD).
If and when the disease progresses enough in a given case, the nephrologist or other practitioner and the patient will have to decide what form of renal replacement therapy will be used to treat end-stage kidney disease (kidney failure, typically stage 4 or 5 of chronic kidney disease).
That will either be some form of dialysis, which can be done at least two different ways at varying frequencies and durations (whether it is done at home or in the clinic depends on the method used and the patient's stability and training) and eventually, if they are eligible because of the nature and severity of their condition and if a suitable match can be found, unilateral or bilateral kidney transplantation.
A Cochrane Review study of autosomal dominant polycystic kidney disease made note of the fact that it is important at all times, while avoiding antibiotic resistance, to control infections of the cysts in the kidneys, and if affected, the liver, when needed for a certain duration to combat infection, by using, quote: "bacteriostatic and bacteriocidal drugs".
MCDK is not treatable. However, the patient is observed periodically for the first few years during which ultrasounds are generally taken to ensure the healthy kidney is functioning properly and that the unhealthy kidney is not causing adverse effects. In severe cases MCDK can lead to neonatal fatality (in bilateral cases), however in unilateral cases the prognosis might be better (it would be dependent on associated anomalies).
Often, aggressive treatment is unnecessary for people with MSK disease that does not cause any symptoms (asymptomatic). In such cases, treatment may consist of maintaining adequate fluid intake, with the goal of decreasing the risk of developing kidney stones (nephrolithiasis). Cases of recurrent kidney stone formation may warrant evaluation for possible underlying metabolic abnormalities.
In patients with low levels of citrate in the urine (hypocitraturia) and incomplete distal renal tubular acidosis, treatment with potassium citrate helps prevent the formation of new kidney stones. Urinary tract infections, when they occur, should also be treated.
Patients with the more rare form of MSK marked by chronic pain typically require pain management. Non-obstructing stones in MSK can be associated with significant and chronic pain even if they're not passing. The pain in this situation can be constant. It is not certain what causes this pain but researchers have proposed that the small numerous stones seen in MSK may cause obstruction of the small tubules and collecting ducts in the kidney which could lead to the pain. This pain can often be debilitating and treatment is challenging. Narcotic medication even with large quantities is sometimes not adequate. Some success with pain control has been reported using laser lithotripsy (called “ureteroscopic laser papillotomy”).
ADPKD individuals might have a normal life; conversely, ARPKD can cause kidney dysfunction and can lead to kidney failure by the age of 40-60. ADPKD1 and ADPKD2 are very different, in that ADPKD2 is much milder.
Currently, there are no therapies proven effective to prevent the progression of polycystic kidney disease (autosomal dominant).
Treatment is focused on preventing deposition of uric acid within the urinary system by increasing urine volume with potent diuretics such as furosemide. Raising the urinary pH to a level higher than 7 (alkalinization) is often difficult to attain, although sodium bicarbonate and/or acetazolamide are sometimes used in an attempt to increase uric acid solubility.
Dialysis (preferably hemodialysis) is started if the above measures fail.
Treatment of hydronephrosis focuses upon the removal of the obstruction and drainage of the urine that has accumulated behind the obstruction. Therefore, the specific treatment depends upon where the obstruction lies, and whether it is acute or chronic.
Acute obstruction of the upper urinary tract is usually treated by the insertion of a nephrostomy tube. Chronic upper urinary tract obstruction is treated by the insertion of a ureteric stent or a pyeloplasty.
Lower urinary tract obstruction (such as that caused by bladder outflow obstruction secondary to prostatic hypertrophy) is usually treated by insertion of a urinary catheter or a suprapubic catheter.Surgery is not required in all prenatally detected cases.
There are no treatment to return to its normal functions. However, there are treatments for the different symptoms.
For the Developmental symptoms, Educational intervention and speech therapy beginning in infancy could help to reduce the high risk for motor, cognitive, speech, and language delay
For theSkeletal features, referral to an orthopedist for consideration of surgical release of contractures. In addition,early referral to physical therapy could help increase joint mobility.
Lastly, Thyroid hormone replacement could help out the thyroid dysfunction
There is no known specific treatment for this condition. Management is supportive.
Treatment for NPS varies depending on the symptoms observed.
- Perform screening for renal disease and glaucoma, surgery, intensive physiotherapy, or genetic counseling.
- ACE inhibitors are taken to treat proteinuria and hypertension in NPS patients.
- Dialysis and renal transplant.
- Physical therapy, bracing and analgesics for joint pain.
- Other surgery treatments such as patella realignment, joint replacement, and the cutting away of the head of radius.
The diagnosis of nephronophthisis can be obtained via a renal ultrasound, family history and clinical history of the affected individual according to Stockman, et al.
Complications associated with medullary sponge kidney include the following:
- Kidney stones
- Urinary tract infection (UTI)
- Blood in the urine
- Distal renal tubular acidosis (Type 1 RTA)
- Chronic kidney disease (rarely)
- Marked chronic pain
Ask-Upmark kidneys are a cause of secondary hypertension that can be curable.
Treatment is symptomatic, often addressing indicators associated with peripheral pulmonary artery stenosis. Laryngotracheal calcification resulting in dyspnea and forceful breathing can be treated with bronchodilators including the short and long-acting β2-agonists, and various anticholinergics. Prognosis is good, yet life expectancy depends on the severity and extent of diffuse pulmonary and arterial calcification.
Surgery (autotransplantation) is thought by some to be of benefit in selected individuals and advocated in some centres, but usually considered the last resort.
Physicians discourage surgery, as LPHS symptoms often re-occur after autotransplantation.
Another treatment that has been known to help LPHS sufferers with their daily pain is a Spinal Cord Stimulator.
It is thought to be congenital or the consequence of vesicoureteral reflux.
Patients will require dialysis to compensate for the function of their kidneys.
The treatment of LPHS varies considerably from centre to centre. As the condition is rare and poorly understood, a widely adopted standard of care is not existent.
Treatment of loin pain-hematuria syndrome (LPHS) typically consists of pain management. Narcotics or oral opioids may be prescribed to help control pain. Patients with severe pain may need high-dose opioids daily or almost daily. Occasionally, people with LPHS require hospitalization for intravenous opioid therapy and control of nausea. Other treatments may include denervation, autotransplantation, renal neurectomy, or nephrectomy. Unfortunately symptoms often recur following these procedures. Limited evidence suggests that drugs that inhibit angiotensin may reduce the frequency and severity of episodes of loin pain and gross hematuria.
Pain management with opiate and non-opiate analgesia is common. Angiotensin converting enzyme inhibitors are thought to be beneficial, as they reduce intraglomerular pressure and, presumably, reduce renal tubular congestion with RBCs.
Possible treatment regimens
Depending upon the treatment required, it is sometimes most appropriate to wait until later in life for a surgical remedy – the childhood growth of the face may highlight or increase the symptoms. When surgery is required, particularly when there is a severe disfiguration of the jaw, it is common to use a rib graft to help correct the shape.
According to literature, HFM patients can be treated with various treatment options such functional therapy with an appliance, distraction osteogenesis, or costochondral graft. The treatment is based on the type of severity for these patients. According to Pruzanksky's classification, if the patient has moderate to severe symptoms, then surgery is preferred. If patient has mild symptoms, then a functional appliance is generally used.
Patients can also benefit from a Bone Anchored Hearing Aid (BAHA).
Multicystic dysplastic kidney (MCDK) is a condition that results from the malformation of the kidney during fetal development. The kidney consists of irregular cysts of varying sizes. Multicystic dysplastic kidney is a common type of renal cystic disease, and it is a cause of an abdominal mass in infants.
While most cases of horseshoe kidneys are asymptomatic and discovered upon autopsy, the condition may increase the risk for:
- Kidney obstruction – abnormal placement of ureter may lead to obstruction and dilation of the kidney.
- Kidney infections – associated with vesicoureteral reflux.
- Kidney stones – deviant orientation of kidneys combined with slow urine flow and kidney obstruction may lead to kidney stones.
- Kidney cancer – increased risk of renal cancer, especially Wilms' tumor, transitional cell carcinoma, and an occasional case report of carcinoid tumor. Despite increased risk, the overall risk is still relatively low.
The prevalence of horseshoe kidneys in females with Turner Syndrome is about 15%.
It can be associated with trisomy 18.
It can be associated with venous anomalies like left sided IVC 9.
The different manifestations of Birt–Hogg–Dubé syndrome are controlled in different ways. The fibrofolliculomas can be removed surgically, through curettage, shave excision, skin resurfacing, or laser ablation; however, this is not a permanent solution as the tumors often recur. The renal and pulmonary symptoms are managed preventatively: CT scans, ultrasounds, or MRIs of the kidneys are recommended regularly, and family members are advised not to smoke. MRIs are the preferred method for surveillance of the kidneys in people with BHD because they do not carry the same risk of radiation complications as CT scans and are more sensitive than ultrasounds. Smokers with Birt–Hogg–Dubé have more severe pulmonary symptoms than non-smokers. Though nephrectomy is sometimes indicated, kidney tumors in cases of Birt–Hogg–Dubé are often removed without taking the whole kidney, in a procedure called partial nephrectomy. Knockout mouse studies have shown that administration of rapamycin may mitigate the effects of FLCN mutations on kidneys and improve renal cancer prognoses because of folliculin's interaction with the mTOR pathway.
There is no standard course of treatment for cerebellar hypoplasia. Treatment depends upon the underlying disorder and the severity of symptoms. Generally, treatment is symptomatic and supportive. Balance rehabilitation techniques may benefit those experiencing difficulty with balance. Treatment is based on the underlying disorder and the symptom severity. Therapies include physical, occuptational, speech/language, visual, psych/ behavioral meds, special education.
The prognosis of hydronephrosis is extremely variable, and depends on the condition leading to hydronephrosis, whether one (unilateral) or both (bilateral) kidneys are affected, the pre-existing kidney function, the duration of hydronephrosis (acute or chronic), and whether hydronephrosis occurred in developing or mature kidneys.
For example, unilateral hydronephrosis caused by an obstructing stone will likely resolve when the stone passes, and the likelihood of recovery is excellent. Alternately, severe bilateral prenatal hydronephrosis (such as occurs with posterior urethral valves) will likely carry a poor long-term prognosis, because obstruction while the kidneys are developing causes permanent kidney damage even if the obstruction is relieved postnatally.
Hydronephrosis can be a cause of pyonephrosis - which is a urological emergency.
A number of features found with Nasodigitoacoustic syndrome can be managed or treated. Sensorineural hearing loss in humans may be caused by a loss of hair cells (sensory receptors in the inner ear that are associated with hearing). This can be hereditary and/or within a syndrome, as is the case with nasodigitoacoustic syndrome, or attributed to infections such as viruses. For the management of sensorineural hearing loss, hearing aids have been used. Treatments, depending upon the cause and severity, may include a pharmacological approach (i.e., the use of certain steroids), or surgical intervention, like a cochlear implant.
Pulmonary, or pulmonic stenosis is an often congenital narrowing of the pulmonary valve; it can be present in nasodigitoacoustic-affected infants. Treatment of this cardiac abnormality can require surgery, or non-surgical procedures like balloon valvuloplasty (widening the valve with a balloon catheter).