By Richard Klasco, M.D Photo Credit Ask Well Photo Credit Why Do We Yawn? Reading about yawning makes people yawn. You are probably yawning right now. By Roni Caryn Rabin Latest Search Latest Articles Search Articles 13844 results for sorted by [nytimes.com]

Nephronophthisis-medullary cystic disease In children, this disorder can lead to a failure to thrive, growth retardation, bone deformities, or muscle spasms caused by low calcium. Juveniles may have poor bone formation and neurologic abnormalities. [my.clevelandclinic.org]

Common findings include a failure to thrive and weakness. Anorexia, nausea, pruritus, bone pain, and neurologic symptoms herald ESRD. Because of salt wasting, hypertension is rare, except in the infantile form of nephronophthisis. [emedicine.medscape.com]

Unilateral or bilateral nephrectomy is performed in cases of respiratory compromise in neonates or when failure to thrive is present. Dialysis and transplantation are treatments of choice in end stage renal disease. [lecturio.com]

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenital. J Invest Dermatol 2001 ; 117 : 1391 –6. Bross P, Corydon TJ, Andresen BS, Jorgensen MM, Bolund L, Gregersen N. [doi.org]

Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease NOTCH2 Alagille syndrome, Hajdu-Cheney syndrome PKD1 Polycystic kidney disease PKD2 Polycystic kidney disease PKHD1 Polycystic kidney disease [genda.com.ar]

[…] syndrome, Hyperostosis, endosteal, Osteosclerosis, Exudative vitreoretinopathy, Osteopetrosis late-onset form type 1, LRP5 primary osteoporosis AD/AR/Digenic 57 196 MAPKBP1 Nephronophthisis 20 AR 6 7 NEK8 Nephronophthisis AR 16 18 NOTCH2 * Alagille syndrome [blueprintgenetics.com]

Cerebellar ataxia (Joubert's syndrome). Liver fibrosis. Differential diagnosis Polycystic kidney disease Chronic pyelonephritis Urinary tract obstruction Investigations Hyponatraemia may occur if sodium intake is reduced for any reason. [patient.info]

Keywords Retinitis Pigmentosa Cerebellar Ataxia Retinal Degeneration Cystic Disease Renal Medulla These keywords were added by machine and not by the authors. [link.springer.com]

Mainzer F, Saldino RM, Ozonoff MB, Minagi H: Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am J Med 49 : 556 -562, 1970 20. [jasn.asnjournals.org]

The first sign of MCKD is polyuria; later, the clinical findings relate to renal insufficiency. Originally, NPH and MCKD were considered separate entities. [ncbi.nlm.nih.gov]

Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary osmolality (decreased concentration) in the first morning urine. [diseaseinfosearch.org]

Symptoms Early in the disease, depending on the form of ADTKD, symptoms may include: Excessive urination (polyuria) Gout Salt cravings Urination at night (nocturia) Weakness As the disease worsens, symptoms of kidney failure may develop, which include [mountsinai.org]

Nephronophthisis and autosomal dominant tubulointerstitial kidney disease cause inability to concentrate urine (with polydipsia and polyuria), sodium wasting, anemia, and ESRD. [merckmanuals.com]

CONCLUSION: MUC1 mutation results in progressive chronic kidney failure with a bland urinary sediment. [ncbi.nlm.nih.gov]

Although dialysis is a life-sustaining treatment, people with kidney failure may also be able to undergo a kidney transplant. MCKD leads to end-stage renal disease — in other words kidney failure will occur eventually. [healthline.com]

As the disease progresses, kidney failure develops. Treatment may involve taking medicines and diet changes, limiting foods containing phosphorus and potassium. You may need dialysis and a kidney transplant. [mountsinai.org]

Everyone with MCKD will eventually need treatment for kidney failure. Treatment options include: dialysis kidney transplantation supportive care. Where to get help Your doctor Kidney Health Australia Information Service. [betterhealth.vic.gov.au]

They are not the same thing as polycystic kidney disease, which is a progressive disease that can lead to kidney failure. Simple kidney cysts most often do not cause harm. [webmd.com]

(The fractional excretion of uric acid increases in patients as renal function declines. 27 ) Thirty-two of 36 subjects carrying the UMOD mutation met the strict clinical criteria required to be diagnosed as affected. [doi.org]

In case 3, tubules were ensheathed by dense acellular hyaline material. 3 In family 4, biopsy samples showed focal tubular atrophy with interstitial fibrosis and lymphocytic infiltration. [doi.org]