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Table of Contents
CLINICAL ARTICLE
Year : 2020  |  Volume : 21  |  Issue : 1  |  Page : 20-26

Stone bone – Is osteopetrosis as hard as it can be???


1 Lecturer, College of Nursing, CMC, Vellore, Tamil Nadu, India
2 Professor, College of Nursing, CMC, Vellore, Tamil Nadu, India
3 Staff Nurse, CMC, Vellore, Tamil Nadu, India

Date of Submission07-Jan-2019
Date of Decision08-Sep-2019
Date of Acceptance09-Sep-2019
Date of Web Publication14-Sep-2020

Correspondence Address:
Mrs. B Abijah Princy
College of Nursing, CMC, Vellore, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/IJCN.IJCN_43_20

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  Abstract 

Bone is a vibrant tissue comprising of osteoblasts and osteoclasts. Osteoblasts synthesise bone matrix, whereas osteoclasts help in bone resorption. Osteopetrosis is a heritable disorder that leads to failure of osteoclasts to resorb bone. This leads to impairment in bone modelling and remodelling as changes occur in the shape and structure of the bone. Nearly 70% of osteopetrosis is caused by genetic mutations of TCIRG1, CLCN7, OSTM1, RANKL, RANK and PLEKHM1 genes. Clinical manifestations range from increased bone density, skeletal fragility, disturbed tooth eruptions to haematopoietic insufficiency, nervous degeneration, mental retardation and developmental delay. Diagnosis is mainly by clinical presentation and radiological findings. Treatment is primarily supportive to stimulate host osteoclasts by administering calcium and Vitamin D supplementation, high-dose calcitriol, joint arthroplasty, interferon gamma 1b and gene therapy. Haematopoietic stem cell transplantation is indicated for severe forms of autosomal recessive osteopetrosis. Infantile and intermediate forms of autosomal recessive osteopetrosis can be fatal if left untreated. This article includes a case report of osteopetrosis with focused nursing care using nursing process approach.

Keywords: Bone remodelling, genetic mutation, haematopoietic stem cell transplantation, osteopetrosis


How to cite this article:
Princy B A, Chacko ST, Lucas A, Deepa MN, Dharshini R K. Stone bone – Is osteopetrosis as hard as it can be???. Indian J Cont Nsg Edn 2020;21:20-6

How to cite this URL:
Princy B A, Chacko ST, Lucas A, Deepa MN, Dharshini R K. Stone bone – Is osteopetrosis as hard as it can be???. Indian J Cont Nsg Edn [serial online] 2020 [cited 2020 Oct 1];21:20-6. Available from: http://www.ijcne.org/text.asp?2020/21/1/20/295040


  Introduction Top


Osteopetrosis is derived from a Greek word, where 'osteo' refers to bone and 'petros' refers to stone, 'stone bone'. It is also known as marble bone disease and Albers-Schonberg disease, first described by a German radiologist Albers-Schonberg in 1904. He identified the radiographic findings in a patient with increased bone density. Osteopetrosis is a heterogeneous group of heritable condition characterised by the failure of osteoclasts' function, leading to increased bone density.[1] Osteoclasts are multinucleated cells of haematopoietic lineage that are vital for bone remodelling. Osteoblasts are mesenchymal in origin. The bone matrix synthesised by the osteoblasts supports the growth, maturation and function of osteoclasts. They also secrete macrophage colony-stimulating factor (CSF), granulocyte macrophage-CSF, interleukin-1 and interleukin-6, which influence the osteoclast's activity. Bone density is based on the relative functioning of these two cell types.[2],[3]


  Incidence Top


Severe autosomal recessive form of osteopetrosis has an incidence of approximately 1 in 250,000 births and a mild autosomal dominant form has an incidence of 1 in 20,000 births.[4]


  Classification Top


In humans, there are three forms of osteopetrosis based on age and clinical factors:[2]

  1. Infantile: Featured by autosomal recessive inheritance with severe bone marrow failure. It is usually diagnosed before 1 year of age
  2. Intermediate: Has autosomal recessive inheritance with no bone marrow failure symptoms
  3. Adult onset: The inheritance is autosomal dominant without bone marrow failure. It is often detected incidentally.


Autosomal recessive, autosomal dominant and X linked recessive forms exist, with the most severe form being the autosomal recessive type.[5]


  Prognosis Top


The adult-onset osteopetrosis has good prognosis unlike the infantile and intermediate forms, which can be fatal if left untreated. However, the disease is heterogeneous in clinical presentation and often misdiagnosed.[5]


  Aetiology and Pathophysiology Top


Osteoclastic failure

Osteopetrosis is caused by defect in the formation, differentiation and functioning of osteoclasts. This leads to failure in bone resorption. The defect may lie in the osteoclast lineage itself or in the mesenchymal cells that form and maintain the microenvironment required for proper osteoclast function.[1]

Genetic defects/mutations

Recently, the heterogeneous molecular or genetic defects that impair osteoclastic function have been studied and largely uncovered. Mutations in at least ten genes have been identified as causative in humans, accounting for 70% of all cases of osteopetrosis. Intrinsic disturbances of osteoclastic function due to mutations in genes encoding osteoclast-specific subunits of the vacuolar proton pump (TCIRG1, CLCN7, OSTM1, RANKL, RANK and PLEKHM1) are found in most patients with recessive form. Mutations in TNFSF11 and TNFRSF11A lead to osteoclast-poor ARO. Mutations of CLCN7 are observed in the dominant form of osteopetrosis.[4],[5]

Carbonic anhydrase isoenzyme II deficiency

Deficiency of carbonic anhydrase isoenzyme II (CA II) has been identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. Lack of CAII results in impaired bone resorption. This enzyme catalyses the formation of carbonic acid from water and carbon dioxide. Carbonic acid dissociates spontaneously to release protons, which are essential for creating an acidic environment required for dissolution of bone mineral in the resorption lacunae.[2]

Viruses

Virus-like inclusions have been reported in osteoclasts of some patients with benign osteopetrosis, but the clinical significance remains uncertain.[2]

Absence of colony-stimulating factor-1

Absence of biologically active CSF-1 due to a mutation in its coding gene caused impairment of osteoclastic function in osteopetrotic mouse.[2]

Osteoblastic function

Recent research has shown that osteoblasts can predispose the disease due to their intrinsic defects or because their activity may be enhanced by deregulated osteoclasts abundantly present in most forms.[2]


  Clinical Manifestations Top


The manifestations are grossly heterogeneous ranging from asymptomatic to fatal in infancy.[1],[4] The more severe forms tend to have autosomal recessive inheritance, whereas the mildest forms are observed in adults and are inherited in an autosomal dominant manner.

  1. Skeletal: Increased bone density, diffuse and focal sclerosis of varying severity, modelling defects at metaphyses, pathological fractures and osteomyelitis
  2. Dental: Tooth eruption defects and dental caries
  3. Haematological: Haematopoietic failure leading to pancytopenia, extramedullary haematopoiesis and hepatosplenomegaly
  4. Neurological: Neurodegeneration including retinal atrophy, cranial nerve compression (II, VII, VIII-optic nerve, blindness, auditory nerve, deafness, facial nerve and paresis), hydrocephalus, intracranial calcification, convulsions, mental retardation
  5. Others: Hypocalcaemia, renal tubular acidosis, developmental delay, lymphedema and immunodeficiency, resulting in overwhelming infection.



  Diagnosis Top


The disease is mainly diagnosed based on the clinical features and radiological findings of the skeleton.

Radiological testing

Computed tomographic scans, magnetic resonance imaging and bone scans provide specific information.

Classic radiological features of osteopetrosis

Radiologic features of osteopetrosis usually provide the specific diagnosis. Bones may show generalised osteosclerosis, evidence of fractures or osteomyelitis and may be uniformly sclerotic affecting the skull, spine, pelvis and appendicular bone.[2] Bone modelling defects at the metaphyses of long bones, such as funnel-like appearance ('Erlenmeyer flask' deformity), characteristic lucent bands, 'bone within a bone' or endobone phenomena (tarsals, carpals, phalanges, vertebra and ilium) and thickened growth plates if there is superimposed rickets and presence of 'Sandwich' vertebrae and 'Rugger-jersey' spine are typical of this disease.[1]

Genetic testing

Genetic testing can be used to confirm the diagnosis, differentiate between different subtypes of osteopetrosis and predict the prognosis.

Biopsy

Iliac crest bone biopsy is used to quantitate osteoclast and marrow changes by light and electron microscopy. It can distinguish between osteoclast-poor and osteoclast-rich subtypes of autosomal recessive osteopetrosis.

Creatine kinase BB isoenzyme and tartrate-resistant acid phosphatase

Raised concentrations of the creatine kinase BB isoenzyme and tartrate-resistant acid phosphatase are noted in autosomal dominant forms.[2]

Differential diagnosis

According to Stark and Savarirayan,[1] some of the alternative diagnoses to consider include:

  • Fluorosis
  • Beryllium, lead and bismuth poisoning
  • Myelofibrosis
  • Paget's disease (sclerosing form)
  • Malignancies (lymphoma, osteoblastic cancer metastases).



  Genetic Counselling Top


Genetic counselling is based on the mode of inheritance in a particular family. The following factors can be considered and discussed with the family:

  1. Autosomal recessive: The parents of the affected child have a 1 in 4 (25%) risk of having further affected children in each pregnancy. Around 2/3rd of the unaffected siblings are expected to be carriers
  2. Autosomal dominant: Each child of an affected individual has a 1 in 2 (50%) risk of being affected
  3. X-linked recessive: If the mother of the child is a carrier, 50% of male pregnancies will be affected, and 50% of female pregnancies will be carriers.[1]



  Treatment Top


At present, there is no successful medical treatment available for osteopetrosis. Thus, the treatment is mainly supportive aimed at providing multidisciplinary surveillance and symptomatic management of complications (Stark and Savarirayan, 2009). Medical treatment of osteopetrosis is based on efforts to stimulate host osteoclasts or provide an alternative source of osteoclasts.

Osteoclastic stimulators

Stimulation of host osteoclastic differentiation has been attempted with calcium restriction, high-dose calcitriol, steroids, parathyroid hormone and interferon (IFN).[4],[6]

Symptomatic management

  • Prevention and management of fractures and arthritis due to bone brittleness
  • Calcium and Vitamin D supplementation for hypocalcaemic seizures
  • Red blood cell and platelet transfusions for bone marrow failure
  • Monitoring for developmental delay through neurological evaluation
  • Ophthalmologic surveillance to detect optic nerve atrophy
  • Dental surveillance and maintenance of oral hygiene to prevent and manage delayed tooth eruption, ankylosis, abscesses, cysts and fistulas.


Surgery

Corrective osteotomies are performed in children for non-union of a fractured femoral neck and for coxa vara.[7] Open reduction and internal fixation with intramedullary fixation of fractures is difficult but possible due to hardness of bone. Total hip and total knee arthroplasties have excellent results.[8] Surgical decompression of optic nerve to prevent vision loss is also been carried out.[1]

Gene therapy

Recent trials on haematopoietic stem cell-targeted gene therapy in a mouse model of infantile malignant osteopetrosis was shown to correct many aspects of the disease.[9]

Haematopoietic stem cell transplantation

Haematopoietic stem cell transplantation (HSCT) is indicated for severe forms of autosomal recessive osteopetrosis. HSCT using human leucocyte antigen-identical donors resulted in 73% 5-year disease-free survival. The only curative treatment for malignant infantile osteopetrosis is stem cell transplantation to provide monocytic osteoclast precursors. The complications include rejection, delayed haematopoietic reconstitution, venous occlusive disease, pulmonary hypertension and hypercalcaemic crisis. Outcomes are better with early transplantation, particularly before the age of 3 months.[1],[4],[6]

Interferon gamma 1b

IFN gamma 1b is found to improve the immune system, increase bone resorption and increase bone marrow space. This therapy is indicated in patients with osteopetrosis variants unlikely to respond to HSCT and also as a bridge to transplantation.[1]


  Complications Top


Failure of the osteoclasts to resorb the bone leads to complications such as thickened, dense, deformed and easily fractured bone.[10] Delayed union or non-union of fractures and osteomyelitis especially of the mandible may occur.[1] Other complications include growth failure, anaemia, hypoplastic dentition, chronic infections, facial fistulas, blindness, hearing loss, nasal congestion, upper airway obstruction and neurodegeneration.[11]


  Nursing Management of a Child With Osteopetrosis Top


Nursing management in osteopetrosis is discussed using a case report and nursing process approach.[12]

Case report

One-year-old Master S. was referred to a tertiary care hospital in view of suspected osteopetrosis. He is the third child of a consanguineous marriage. He had an older sibling who expired at 18 months of age due to autosomal recessive osteopetrosis. Hence, Master S. was empirically evaluated at a local hospital at 6 months of age and was found to have radiological features of osteopetrosis. On physical examination, he was found to have short neck, short nose, dysplastic pinna, frontal bossing of skull, periorbital puffiness, sparse eyebrows, soft non-tender palpable liver –5 cm below the costal margin and stunted growth. He was confirmed to have autosomal recessive osteopetrosis on the basis of bone marrow biopsy, which showed thickened bone trabeculae with interconnected woven bone surrounding unresorbed cartilage with hypercellular marrow. Definite osteoclasts were not seen. Mutation analysis had no pathological variants on TC1RG1, CLCN7, OSTM1 and RANK genes. Radiological findings showed hyperdense skeletal bones, prominence of frontal bone, thickened bony cortex, increased density of facial bones and narrowing of cranial nerve outlets.

He underwent haplo-identical stem cell transplantation, with his mother being the donor. A total dose of 12.8 × 106/kg CD 34+ cells was transfused. The dose of total nucleated cells infused was 13.13 × 108/kg. Post transplantation, he developed febrile neutropenia and lower respiratory tract infection related to Adeno virus. Chest X-ray revealed right-sided opacity. Throat swab (multiplex polymerase chain reaction [PCR] for respiratory virus) showed adeno virus, rhino virus and Cytomegalovirus (CMV). PCR showed an increased viral load of 5281 copies/ml suggesting ganciclovir-resistant CMV strains. Blood culture revealed vancomycin-resistant Enterococcus and extended-spectrum beta-lactamase (ESBL) Escherichia coli. He also developed follicular erythematous skin rash over the thighs, back and perineum due to Engraftment syndrome. Skin biopsy revealed Grade III graft versus host disease (GVHD). He developed severe abdominal pain, loose stools and melena (10–12 episodes/day) from day +27 to day +42 post transplant. Rectal biopsy revealed evidence of Grade IV gastrointestinal (GI) GVHD. He also developed cyclosporine-induced microangiopathic haemolytic anaemia and hypertension, hypercalcaemia, viral conjunctivitis and rhino viral infection. He was on continuous oral immunosuppressive therapy, antimicrobial therapy, blood product support, granulocyte CSF, phototherapy and total parenteral nutrition. However, the child was stable at the time of discharge after being hospitalised for about 4 months.

The nursing assessment revealed the following needs/problems:

  • Parental anxiety related to child's condition and treatment procedures, environmental adaptation
  • Knowledge deficit related to therapy, home care
  • Complications related to treatment (stem cell transplant)
  • Septicaemia
  • GVHD
  • Skin rashes/engraftment syndrome
  • Abdominal pain
  • Diarrhoea.
  • Nutritional need
  • Fatigue
  • Worry about body image.


Following is the nursing care planned and implemented for the above needs/problems.[12]

1. Nursing diagnosis

Anxiety (parental) related to hospitalisation, invasive procedures and prognosis

Expected outcome

Anxiety is minimised as evidenced by positive coping mechanisms and restful appearance

Nursing interventions

  • Acknowledged awareness of the parent's anxiety. Examined anxiety-provoking situations
  • Reassured and provided a non-threatening environment
  • Oriented the caregivers to new experiences, procedures and people especially regarding bone marrow transplant unit
  • Involved child in play therapy
  • Encouraged verbalisation of feelings and cleared the doubts of caregivers in simple language,


Evaluation

Anxiety was minimised to some extent. Parents were restful and calm. They verbalised familiarity over the environment and procedures.

2. Nursing diagnosis

Knowledge deficit related to unfamiliarity with procedures and treatments in HSCT, possible side effects, discharge and follow-up care

Expected outcome

Learning needs are met regarding procedures, treatments, possible complications and follow-up care as evidenced by verbalisation of understanding by parents

Nursing interventions

  • Assessed the parent's understanding of procedures, treatment plan and follow-up after discharge
  • Explained on haplo-identical allogeneic stem cell transplantation including harvest procedure, conditioning, engraftment, side effects, complications including GVHD and the physical set-up of bone marrow transplantation unit during the stay in unit
  • Explained the need for infection control, care of central venous access device, antiobiotic/antifungal/antiviral therapy, blood transfusion, total parenteral nutrition and low microbial diet
  • Discussed on follow-up schedule and home care
  • Discussed the need to continue infection control measures and prevention of infection.


Evaluation

The parents verbalised understanding and confidence in caring for Master S.

3. Nursing diagnosis

Actual infection (sepsis) related to immunosuppression secondary to high-dose chemotherapy/radiation, adeno virus, CMV and rhino virus seropositivity and vancomycin-resistant enterococcal sepsis

Expected outcome

Infection is minimised as evidenced by normothermia, negative blood surveillance culture, normal chest radiograph, absolute neutrophil count >1500 mm 3

Nursing interventions

  • Inspected for signs of infection including fever, chills, vomiting, diarrhoea, cough. Monitored white blood cell (WBC) counts periodically. Chest auscultation revealed bilateral infrascapular crepitation. Had watery discharge and redness of eyes, suggesting viral conjunctivitis
  • Monitored the central venous access device site for infection and performed weekly dressing meticulously
  • Obtained chest X-ray, blood culture for sensitivity
  • Adopted reverse barrier nursing technique (protective isolation)
  • Ensured vigorous hand washing. Maintained aseptic technique while performing procedures. Taught on prevention of infection
  • Practiced meticulous oral/body hygiene
  • Instituted low microbial diet with high calories, proteins, Vitamin C, minerals and fluids. Low microbial diet is the one recommended for post-transplant patients, which is a diet which is hygienic with less number of microbes, which reduces the chance of infection and GI irritation – for example, home-cooked, freshly prepared food. Food prepared using pressure cooker (steamed) and thick-skinned fruits rather than thin skinned and boiled water were given
  • Administered antimicrobial therapy.


Febrile neutropenia/lower respiratory tract infection related to adeno virus:

  • Injection cefoperazone/sulbactam 500 mg Q8 h, injection amikacin 150 mg od, injection meropenem, injection azithromycin 75 mg od, injection ampicillin 350 mg Q6 h, 400 mg tid and injection teicoplanin 200 mg od
  • Rhino viral infection: Injection intravenous immunoglobulin (IVIG 3 g, tablet augmentin 125 mg tid
  • Conjunctivitis: Ciprofloxacin and chloramphenicol topical-eye applications, syrup acyclovir 50 mg tid for viral infections
  • Ganciclovir-resistant cytomegalo-viraemia: Injection artesunate 20 mg od
  • Vancomycin-resistant enterococcal sepsis: Injection teicoplanin 200 mg od, changed Hickman's central line catheter
  • ESBL E. coli infection: Injection cefoperazone/sulbactam 500 mg Q8 h, injection meropenem 400 mg tid and injection teicoplanin 200 mg od
  • Prophylactic drugs: Injection ambisome 40 mg od, syrup Septran 40 mg 2/7, syrup voriconazole 35 mg bd, tablet Pentids 2 lakh units bd


Evaluation

Infection was minimised. The patient was afebrile and had negative blood culture report after 15 days of antibiotics. Had clear lung sounds. The WBC count was 3200 mm 3. CMV copies declined to 1343 copies/ml, 182 copies/ml over a period of 3 months and then became negative.

4. Nursing diagnosis

Ineffective protection related to bone marrow suppression secondary to chemotherapy/radiation therapy, GVHD, immunosuppressive therapy, drug injury (prolonged antimicrobial therapy), nutritional deficiencies

Expected outcome

The patient maintains optimal body functioning as evidenced by improvement in general health status and absence of treatment-related complications

Nursing interventions

  • Monitored vital signs
  • Assessed for post stem cell transplant complications. Observed for signs and symptoms of pancytopenia/myelosuppression. Monitored complete blood counts
  • Administered blood products and granulocyte CSF 50 μg 3/7
  • Monitored for side effects of chemotherapy, radiation, antimicrobial therapy such as nausea, vomiting, bone marrow suppression, diarrhoea, alopecia and infection
  • Assessed the nutritional status and provided parenteral nutrition
  • Assisted in skin and rectal biopsy. Administered steroids and immunosuppressant (injection methyl prednisolone 10 mg od, syrup tacrolimus 0.125 mg od, injection cyclosporine 20 mg bd, injection cyclophosphamide 440 mg od) for GVHD. Administered eight doses of injection basiliximab 5 mg and injection etanercept 5 mg. Administered tablet mycophenolate mofetil 400 mg od for cyclosporine-induced microangiopathic haemolytic anaemia. Tablet amlodipine 2.5 mg od, tablet Nicardia 2.5 mg bd and tablet Labetalol 125 mg tid were given for hypertension for 2 months


Evaluation

There was improvement in GVHD as treatment continued. There was reduction in follicular erythematous rashes. He passed soft-formed stools after 16 days. Blood pressure remained around 100 to 110/60 to 70 mmHg over a period of 2 months. He was able to tolerate oral feeds before discharge.

5. Nursing diagnosis

Impaired skin integrity related to the side effects of chemotherapy/radiation therapy, effects of Grade III skin GVHD

Expected outcome

The patient achieved improved skin integrity as evidenced by the absence of follicular erythematous rash and reduction in the side effects of chemotherapy/radiation therapy

Nursing interventions

  • Assessed the general condition of skin for erythema, darkening and dry/wet desquamation. Monitored for changes and characteristics of lesions
  • Applied gentle lubricating lotions/creams such as liquid paraffin
  • Taught parents to avoid exposing the skin to pressure, rough clothing and extremes of temperature
  • Administered topical steroid (Betnovate cream od)
  • Administered phototherapy once a day for 2 weeks using phototherapy machine.


Evaluation

There was a significant improvement in the child's skin tone and texture at the time of discharge. Follicular erythematous rashes gradually subsided.

6. Nursing diagnosis

Pain (abdominal) related to inflammation of the GI tract secondary to Grade IV GI GVHD

Expected outcome

Patient has reduction in pain as evidenced by restful appearance and facial expression

Nursing interventions

  • Assessed the cause, quality, location, onset, duration and precipitating and relieving factors of pain. Pain score was 7/10
  • Provided adequate rest periods and relaxation
  • Promoted non-pharmacological pain management methods such as distraction and play therapy
  • Administered opioids (injection fentanyl infusion 2 ml/h)/non-opioids (injection tramadol 12.5 mg PRN) and steroids (injection methylprednisolone 10 mg od) for GI GVHD.


Evaluation

The child had reduction in pain level. Pain score was 1/10. Looked cheerful and rested.

7. Nursing diagnosis

Diarrhoea related to intestinal GVHD, side effects of chemotherapy and antibiotic therapy

Expected outcome

Diarrhoea is controlled as evidenced by the patient passing soft, formed stool not more than thrice a day

Nursing interventions

  • Checked bowel sounds and observed for abdominal distension and rigidity
  • Observed the stool pattern and recorded the frequency, character and volume. The child had severe abdominal pain, loose stools and melena (10–12 episodes/day) for 16 days (day +27 to day + 42). Vital signs were monitored for deficient fluid volume
  • Obtained stool specimen for culture and sensitivity. It revealed no evidence of stool parasites. Oral rehydration solution was administered after each episode of loose stools
  • Encouraged oral fluid intake. Administered IV fluids. Monitored intake output chart
  • Administered parenteral nutrition
  • Administered eight doses of injection basiliximab 5 mg and injection etanercept 5 mg each
  • Administered injection methylprednisolone 10 mg od for GI GVHD.


Evaluation

The patient passed soft-formed stool twice a day from day +42 of HSCT. He had no melena. There was improvement in GI GVHD.

8. Nursing diagnosis

Imbalanced nutrition less than the body's requirement related to the side effects of chemotherapy/radiation therapy, intestinal GVHD, malabsorption of nutrients and increased metabolic rate secondary to fever/infection

Expected outcome

The patient achieved optimal nutritional status and protein stores as evidenced by adequate calorie intake based on body requirement and weight gain

Nursing interventions

  • Determined specific causes for imbalanced nutrition. Assessed the nutritional status
  • Monitored laboratory values such as haemoglobin, serum iron, total protein and albumin. Evaluated the effectiveness of antiemetic and antidiarrhoeal therapy
  • Administered parenteral nutrition. Administered supplemental multivitamin therapy and IV fluids
  • Implemented GVHD diet (soft, bland, low microbial diet after maintaining NPO status because of gut GVHD
  • Implemented meticulous oral hygiene with 2% chlorhexidine solution Q4 hourly


Evaluation

The child's nutritional status improved. Parenteral nutrition was stopped. He was able to tolerate oral feeds. There was significant weight gain from 8.8 to 11 kg at the time of discharge.

9. Nursing diagnosis

Fatigue related to the side effects of chemotherapy/radiation, poor nutritional intake, anaemia, hyperthermia and infection

Expected outcome

The child attained optimal energy and activity tolerance as evidenced by ability to play

Nursing interventions

  • Assessed the level of fatigue and the specific cause of fatigue
  • Assisted in planning the activities of daily living and prioritised child's activities with the parents
  • Encouraged frequent rest periods after activity
  • Transfused blood when haemoglobin was <8 g%
  • Encouraged high-protein, high-calorie diet. Administered total parenteral nutrition.


Evaluation

There was improvement in the child's energy level. He was able to actively involve in play therapy.

10. Nursing diagnosis

Parental anxiety related to disturbed body image secondary to generalised wasting, stunted growth, periorbital oedema, dysplastic pinna, frontal bossing of skull, hyperdense facial bones, skin GVHD, alopecia and short neck and nose.

Expected outcome

Parents verbalised positive remarks about the patient and positively accepted the changes in body image

Nursing interventions

  • Observed for verbal/non-verbal cues to note the concerns of parents regarding the altered image
  • Demonstrated acceptance of the child as they are when providing care
  • Encouraged verbalisation of feelings, listened to concerns
  • Conveyed feelings of acceptance and understanding
  • Offered realistic assurance of temporary nature of some physical changes such as alopecia and skin rashes
  • Allowed parents to ventilate and express their concerns about the altered appearance of child.


Evaluation

The parents were able to positively accept the changes in child's body image. The child's appearance improved when the follicular erythematous rashes reduced and the parents looked happy.


  Conclusion Top


Osteopetrosis though being a fatal disease has been successfully managed with supportive care and stem cell transplantation. Evolution of gene therapy is a breakthrough in the treatment of osteopetrosis. Nurses have a challenging role to play in genetic counselling and in caring for patients with osteopetrosis.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

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Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis 2009;4:5.  Back to cited text no. 1
    
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Stocks RM, Wang WC, Thompson JW, Stocks MC 2nd, Horwitz EM. Malignant infantile osteopetrosis: Otolaryngological complications and management. Arch Otolaryngol Head Neck Surg 1998;124:689-94.  Back to cited text no. 10
    
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  In this article
Abstract
Introduction
Incidence
Classification
Prognosis
Aetiology and Pa...
Clinical Manifes...
Diagnosis
Genetic Counselling
Treatment
Complications
Nursing Manageme...
Conclusion
References

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