Nephronophthisis
Description
● Overview:
➣ Nephronophthisis is an uncommon autosomal recessive kidney disease that causes renal cysts, interstitial fibrosis, and disruption of the tubular basement membrane. It eventually leads to end-stage renal disease in childhood or adolescence. Since it is classified as a ciliopathy, around 20% of patients show with extrarenal symptoms such as hepatic fibrosis, skeletal abnormalities, and retinal degeneration.
➣There are currently over 20 known causative genes. The most common mutations occur in NPHP1, but NPHP2, which is brought on by mutations in the INVS gene, typically causes infantile-onset illness that progresses quickly to end-stage renal disease (ESRD), frequently before the age of two years (O'Toole et al., 2006). In order to broaden the NPHP2 phenotypic spectrum, we report a Chinese adolescent who developed ESRD at the age of 15 as a result of a novel homozygous INVS mutation (p.Gln637Ter).
●Presentation of a Case
➣For a week, a 15-year-old Chinese boy complained of headaches and vomiting. He had no prior history of vision problems, polyuria, or small stature. Laboratory testing revealed serum creatinine 1,026.2 μmol/L, haemoglobin 67 g/L, and urine protein 1.05 g/24 hours. His blood pressure was 170/123 mmHg at admission.
➣ The patient was the second child of first cousins, or consanguineous parents. At the age of eight, his older brother passed away from an unidentified kidney condition. There were no noteworthy findings from the neurological or ocular tests.
➣Imaging: Ultrasonography revealed bilateral kidneys that were small (85–90 mm) and had widespread hyperechogenic lesions; there was no cystic enlargement. The CT scan of the chest was normal.
Serology: ANA, dsDNA, anti-GBM, ANCA, and Hepatitis B were all negative.
➣After starting haemodialysis, he had a successful kidney transplant two months later, with an eGFR of 79.6 mL/min/1.73 m² and a post-transplant serum creatinine of 117 μmol/L.
● Discussion
➣With a median start of ESRD at 1, 13, and 19 years, respectively, NPHP is clinically diverse and may be divided into infantile, juvenile, and adolescent variants (Hildebrandt et al., 2009). Infantile NPHP2 is usually caused by INVS mutations, and ESRD frequently manifests before the age of two (Tory et al., 2009).
➣Despite having a truncating INVS mutation, which is often linked to severe infantile illness, our patient presented with atypical adolescent-onset ESRD at the age of 15. This implies that some INVS mutations may provide extended kidney life and draws attention to potential genotype–phenotype variability.
➣Planar cell polarity and Wnt signalling pathways are regulated by inversin, which localises to the primary cilia of renal tubular cells (Eley et al., 2004). Cystic kidney disease, hypertension, and gradual renal failure are the results of disruption. This is the first Chinese instance to show onset in adolescence, even though previously documented INVS mutations caused ESRD at ≤11 years (Otto et al., 2008; Bellavia et al., 2010).
➣There isn't a disease-modifying treatment for NPHP2 at the moment. Kidney transplantation is the preferred treatment, and the only options for management are supportive care and renal replacement therapy.
Protocol
● Problems Met
➣Early Onset Kidney Failure: The patient, a 15-year-old boy, had acute symptoms, such as hypertension and kidney failure, which led to early-onset end-stage renal disease (ESRD).
➣ Non-Specific Presentation: Early diagnosis was made more difficult by the absence of any preceding or evident extrarenal symptoms, but the initial symptoms included headache and vomiting.
➣hereditary Predisposition and Consanguinity: The case demonstrated a strong family history, increasing the risk of hereditary renal illness due to consanguineous parents and a brother who passed away from undetected kidney disease.
➣Complications include:
• Hypertension: a blood pressure reading of 170/123 mmHg was noted during admission.
The patient's haemoglobin level was 67 g/L, indicating moderate anaemia.
• Serum creatinine was 1,026.2 μmol/L, and the estimated glomerular filtration rate (eGFR) was 5.8 ml/min/1.73 m², indicating severe renal dysfunction.
• Haematuria and Proteinuria: The urine erythrocyte count was 5/high-power field, and the urine protein was 1.05 g/24 hours.
➣ Small, Diseased Kidneys: Biopsy and other invasive diagnostic tests were not possible due to the ultrasound's discovery of shrunken kidneys with diffuse lesions.
➣Psychosocial Impact: The loss of a brother, financial difficulty, and an incurable illness caused psychological stress for the teenager and family.
●Nursing Interventions and Management
➣Acute Management
•Hemodialysis Initiation: In order to treat acute renal failure and reduce uremia symptoms, haemodialysis was initiated right away.
→Nursing Role: Vital sign, fluid, and electrolyte balance monitoring; evaluation and avoidance of possible dialysis consequences, including infection, hypotension, and problems with vascular access.
• Blood Pressure Control: Vigilant monitoring and medication delivery were necessary for the management of hypertension. →Nursing Role: Antihypertensive medication administration, regular blood pressure checks, medication adherence education, and lifestyle guidance.
•Anemia Management: Iron supplementation, dietary counselling, and the administration of erythropoiesis-stimulating agents (ESAs) were probably the main methods used to treat moderate anaemia.
The role of a nurse is to monitor haemoglobin, make sure that dietary recommendations and supplements are followed, and keep an eye out for any negative responses.
➣ supportive and long-term care,
•nutritional support is provided through dietary interventions to manage fluid, protein, electrolyte, and caloric intake in accordance with renal guidelines.
→The role of nurses includes coordinating with dietitians, educating patients and their families about renal nutrition, and keeping an eye out for malnutrition or dietary non-compliance.
•Psychosocial Support: Addressing psychological stress and coping mechanisms for the patient and family, especially after the loss of a sibling.
→Nursing Role: Continuous emotional support, referral to counselling or support groups, and open communication regarding disease progression and treatment options.
•Genetic Counselling: The family was informed about the consequences for family planning, genetic risk, and the necessity of screening family members.
→The role of a nurse is to organise genetic counselling sessions and offer emotional support and information throughout genetic testing and result disclosure.
➣ Rehabilitation Care and Renal Transplantation
• Preoperative Care: Getting ready for a kidney transplant, including evaluating and improving the patient's condition.
→Nursing Role: Keeping an eye on test results, maximising nutrition, preventing infections, and preparing the patient psychologically for surgery.
• Postoperative Monitoring: In order to prevent infection and rejection following transplantation, close observation of graft function, serum creatinine, and eGFR is necessary.
→Nursing Role: Immunosuppressive medication administration, infection or rejection monitoring, medication adherence education, and lifestyle modifications for post-transplant health.
• Education and Long-Term Follow-up: Making sure the patient and family are aware of the need for lifelong health monitoring following transplantation.
→Nursing Role: Encouraging medication compliance, identifying early indicators of transplant complications, arranging for routine check-ups, and offering continuous support.
Notes
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